AFAP1L2 — 130 ClinVar variants
All ClinVar germline AFAP1L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
1 Benign · 1 Benign/Likely benign · 9 Likely benign · 119 Uncertain significance
Full AFAP1L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFAP1L2 p.Arg648His Uncertain significance Multiple submitters
- AFAP1L2 p.Ala159Thr Uncertain significance Single submitter
- AFAP1L2 p.Ala180Thr Uncertain significance Single submitter
- AFAP1L2 p.Ala277Val Uncertain significance Single submitter
- AFAP1L2 p.Ala38Thr Uncertain significance Single submitter
- AFAP1L2 p.Ala471Glu Uncertain significance Single submitter
- AFAP1L2 p.Ala557Val Uncertain significance Single submitter
- AFAP1L2 p.Ala6Val Uncertain significance Single submitter
- AFAP1L2 p.Ala710Val Uncertain significance Single submitter
- AFAP1L2 p.Arg109Gln Uncertain significance Single submitter
- AFAP1L2 p.Arg177His Uncertain significance Single submitter
- AFAP1L2 p.Arg184Cys Uncertain significance Single submitter
- AFAP1L2 p.Arg289His Uncertain significance Single submitter
- AFAP1L2 p.Arg42Gln Uncertain significance Single submitter
- AFAP1L2 p.Arg498Cys Uncertain significance Single submitter
- AFAP1L2 p.Arg498His Uncertain significance Single submitter
- AFAP1L2 p.Arg535Gln Uncertain significance Single submitter
- AFAP1L2 p.Arg609Thr Uncertain significance Single submitter
- AFAP1L2 p.Arg660Trp Uncertain significance Single submitter
- AFAP1L2 p.Arg724Gln Uncertain significance Single submitter
- AFAP1L2 p.Arg730Cys Uncertain significance Single submitter
- AFAP1L2 p.Asn529Thr Uncertain significance Single submitter
- AFAP1L2 p.Asn67Ile Uncertain significance Single submitter
- AFAP1L2 p.Asp131Gly Uncertain significance Single submitter
- AFAP1L2 p.Asp247Asn Uncertain significance Single submitter
- AFAP1L2 p.Asp296Asn Uncertain significance Single submitter
- AFAP1L2 p.Asp377Asn Uncertain significance Single submitter
- AFAP1L2 p.Asp385His Uncertain significance Single submitter
- AFAP1L2 p.Cys179Arg Uncertain significance Single submitter
- AFAP1L2 p.Cys373Tyr Uncertain significance Single submitter
- AFAP1L2 p.Cys703Ser Uncertain significance Single submitter
- AFAP1L2 p.Gln288Arg Uncertain significance Single submitter
- AFAP1L2 p.Gln384Arg Uncertain significance Single submitter
- AFAP1L2 p.Gln496Leu Uncertain significance Single submitter
- AFAP1L2 p.Glu355Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu423Asp Uncertain significance Single submitter
- AFAP1L2 p.Glu519Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu520Asp Uncertain significance Single submitter
- AFAP1L2 p.Glu52Asp Uncertain significance Single submitter
- AFAP1L2 p.Glu570Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu584Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu599Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu602Lys Uncertain significance Single submitter
- AFAP1L2 p.Gly156Val Uncertain significance Single submitter
- AFAP1L2 p.Gly271Arg Uncertain significance Single submitter
- AFAP1L2 p.Gly684Arg Uncertain significance Single submitter
- AFAP1L2 p.His762Asn Uncertain significance Single submitter
- AFAP1L2 p.Ile106Met Uncertain significance Single submitter
- AFAP1L2 p.Ile297Thr Uncertain significance Single submitter
- AFAP1L2 p.Leu172Val Uncertain significance Single submitter
- AFAP1L2 p.Leu347Val Uncertain significance Single submitter
- AFAP1L2 p.Leu7Pro Uncertain significance Single submitter
- AFAP1L2 p.Lys116Glu Uncertain significance Single submitter
- AFAP1L2 p.Lys420Arg Uncertain significance Single submitter
- AFAP1L2 p.Lys73Glu Uncertain significance Single submitter
- AFAP1L2 p.Lys746Arg Uncertain significance Single submitter
- AFAP1L2 p.Lys771Asn Uncertain significance Single submitter
- AFAP1L2 p.Lys791Arg Uncertain significance Single submitter
- AFAP1L2 p.Met244Thr Uncertain significance Single submitter
- AFAP1L2 p.Pro318Ser Uncertain significance Single submitter
- AFAP1L2 p.Pro494Leu Uncertain significance Single submitter
- AFAP1L2 p.Pro560Leu Uncertain significance Single submitter
- AFAP1L2 p.Pro560Ser Uncertain significance Single submitter
- AFAP1L2 p.Pro642Leu Uncertain significance Single submitter
- AFAP1L2 p.Pro93Ser Uncertain significance Single submitter
- AFAP1L2 p.Ser475Pro Uncertain significance Single submitter
- AFAP1L2 p.Ser552Thr Uncertain significance Single submitter
- AFAP1L2 p.Ser91Leu Uncertain significance Single submitter
- AFAP1L2 p.Thr242Met Uncertain significance Single submitter
- AFAP1L2 p.Thr320Ala Uncertain significance Single submitter
- AFAP1L2 p.Thr561Arg Uncertain significance Single submitter
- AFAP1L2 p.Thr757Ala Uncertain significance Single submitter
- AFAP1L2 p.Tyr457Ser Uncertain significance Single submitter
- AFAP1L2 p.Val232Met Uncertain significance Single submitter
- AFAP1L2 p.Val543Ile Uncertain significance Single submitter
- AFAP1L2 p.Val613Ile Uncertain significance Single submitter
- AFAP1L2 p.Val758Leu Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- AFAP1L2 p.Ala176Thr Uncertain significance Single submitter
- AFAP1L2 p.Arg174Ser Uncertain significance Single submitter
- AFAP1L2 p.Arg177Cys Uncertain significance Single submitter
- AFAP1L2 p.Arg371Cys Uncertain significance Single submitter
- AFAP1L2 p.Arg386Trp Uncertain significance Single submitter
- AFAP1L2 p.Arg42Trp Uncertain significance Single submitter
- AFAP1L2 p.Arg667Gln Uncertain significance Single submitter
- AFAP1L2 p.Arg667Trp Uncertain significance Single submitter
- AFAP1L2 p.Arg724Trp Uncertain significance Single submitter
- AFAP1L2 p.Asn335Lys Uncertain significance Single submitter
- AFAP1L2 p.Asp152Asn Uncertain significance Single submitter
- AFAP1L2 p.Asp463Asn Uncertain significance Single submitter
- AFAP1L2 p.Asp497Tyr Uncertain significance Single submitter
- AFAP1L2 p.Asp507Gly Uncertain significance Single submitter
- AFAP1L2 p.Asp780Tyr Uncertain significance Single submitter
- AFAP1L2 p.Gln393Arg Uncertain significance Single submitter
- AFAP1L2 p.Glu128Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu402Asp Uncertain significance Single submitter
- AFAP1L2 p.Glu433Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu713Gly Uncertain significance Single submitter
- AFAP1L2 p.Glu721Lys Uncertain significance Single submitter
- AFAP1L2 p.Glu726Lys Uncertain significance Single submitter
- AFAP1L2 p.Gly816Glu Uncertain significance Single submitter
- AFAP1L2 p.Leu476Ile Uncertain significance Single submitter
- AFAP1L2 p.Lys482Asn Uncertain significance Single submitter
- AFAP1L2 p.Lys746Asn Uncertain significance Single submitter
- AFAP1L2 p.Met337Lys Uncertain significance Single submitter
- AFAP1L2 p.Phe455Leu Uncertain significance Single submitter
- AFAP1L2 p.Pro164Ser Uncertain significance Single submitter
- AFAP1L2 p.Pro751Leu Uncertain significance Single submitter
- AFAP1L2 p.Pro98Ala Uncertain significance Single submitter
- AFAP1L2 p.Ser278Cys Uncertain significance Single submitter
- AFAP1L2 p.Ser552Asn Uncertain significance Single submitter
- AFAP1L2 p.Ser651Arg Uncertain significance Single submitter
- AFAP1L2 p.Ser796Leu Uncertain significance Single submitter
- AFAP1L2 p.Trp163Cys Uncertain significance Single submitter
- AFAP1L2 p.Val311Met Uncertain significance Single submitter
- AFAP1L2 p.Val375Leu Uncertain significance Single submitter
- AFAP1L2 p.Val399Met Uncertain significance Single submitter
- AFAP1L2 p.Val60Met Uncertain significance Single submitter
- AFAP1L2 p.Val632Met Uncertain significance Single submitter
- AFAP1L2 p.Val649Met Uncertain significance Single submitter
- AFAP1L2 p.Val798Met Likely benign Single submitter
All AFAP1L2 variants
Benign 1
- p.Glu530= Single submitter
Benign/Likely benign 1
- p.Arg730= Multiple submitters
Likely benign 9
- p.Ala514Val Single submitter
- p.Ala74Val Single submitter
- p.Arg352= Single submitter
- p.Asn378Ser Single submitter
- p.Gly153Ser Single submitter
- p.Gly594Glu Single submitter
- p.His762= Single submitter
- p.Thr635= Single submitter
- p.Val798Met Single submitter ⚠
Uncertain significance 119
- p.Arg648His Multiple submitters ⚠
- p.Ala159Thr Single submitter ⚠
- p.Ala176Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala277Val Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala471Glu Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala710Val Single submitter ⚠
- p.Arg109Gln Single submitter ⚠
- p.Arg174Ser Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg289His Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg498Cys Single submitter ⚠
- p.Arg498His Single submitter ⚠
- p.Arg535Gln Single submitter ⚠
- p.Arg609Thr Single submitter ⚠
- p.Arg660Trp Single submitter ⚠
- p.Arg667Gln Single submitter ⚠
- p.Arg667Trp Single submitter ⚠
- p.Arg724Gln Single submitter ⚠
- p.Arg724Trp Single submitter ⚠
- p.Arg730Cys Single submitter ⚠
- p.Asn335Lys Single submitter ⚠
- p.Asn529Thr Single submitter ⚠
- p.Asn67Ile Single submitter ⚠
- p.Asp131Gly Single submitter ⚠
- p.Asp152Asn Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp296Asn Single submitter ⚠
- p.Asp377Asn Single submitter ⚠
- p.Asp385His Single submitter ⚠
- p.Asp463Asn Single submitter ⚠
- p.Asp497Tyr Single submitter ⚠
- p.Asp507Gly Single submitter ⚠
- p.Asp780Tyr Single submitter ⚠
- p.Cys179Arg Single submitter ⚠
- p.Cys373Tyr Single submitter ⚠
- p.Cys703Ser Single submitter ⚠
- p.Gln288Arg Single submitter ⚠
- p.Gln384Arg Single submitter ⚠
- p.Gln393Arg Single submitter ⚠
- p.Gln496Leu Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu355Lys Single submitter ⚠
- p.Glu402Asp Single submitter ⚠
- p.Glu423Asp Single submitter ⚠
- p.Glu433Lys Single submitter ⚠
- p.Glu519Lys Single submitter ⚠
- p.Glu520Asp Single submitter ⚠
- p.Glu52Asp Single submitter ⚠
- p.Glu570Lys Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.Glu599Lys Single submitter ⚠
- p.Glu602Lys Single submitter ⚠
- p.Glu713Gly Single submitter ⚠
- p.Glu721Lys Single submitter ⚠
- p.Glu726Lys Single submitter ⚠
- p.Gly156Val Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly684Arg Single submitter ⚠
- p.Gly816Glu Single submitter ⚠
- p.His762Asn Single submitter ⚠
- p.Ile106Met Single submitter ⚠
- p.Ile297Thr Single submitter ⚠
- p.Leu172Val Single submitter ⚠
- p.Leu347Val Single submitter ⚠
- p.Leu476Ile Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys116Glu Single submitter ⚠
- p.Lys420Arg Single submitter ⚠
- p.Lys482Asn Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Lys746Arg Single submitter ⚠
- p.Lys746Asn Single submitter ⚠
- p.Lys771Asn Single submitter ⚠
- p.Lys791Arg Single submitter ⚠
- p.Met244Thr Single submitter ⚠
- p.Met337Lys Single submitter ⚠
- p.Phe455Leu Single submitter ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro318Ser Single submitter ⚠
- p.Pro494Leu Single submitter ⚠
- p.Pro560Leu Single submitter ⚠
- p.Pro560Ser Single submitter ⚠
- p.Pro642Leu Single submitter ⚠
- p.Pro751Leu Single submitter ⚠
- p.Pro93Ser Single submitter ⚠
- p.Pro98Ala Single submitter ⚠
- p.Ser278Cys Single submitter ⚠
- p.Ser475Pro Single submitter ⚠
- p.Ser552Asn Single submitter ⚠
- p.Ser552Thr Single submitter ⚠
- p.Ser651Arg Single submitter ⚠
- p.Ser796Leu Single submitter ⚠
- p.Ser91Leu Single submitter ⚠
- p.Thr242Met Single submitter ⚠
- p.Thr320Ala Single submitter ⚠
- p.Thr561Arg Single submitter ⚠
- p.Thr757Ala Single submitter ⚠
- p.Trp163Cys Single submitter ⚠
- p.Tyr457Ser Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val311Met Single submitter ⚠
- p.Val375Leu Single submitter ⚠
- p.Val399Met Single submitter ⚠
- p.Val543Ile Single submitter ⚠
- p.Val60Met Single submitter ⚠
- p.Val613Ile Single submitter ⚠
- p.Val632Met Single submitter ⚠
- p.Val649Met Single submitter ⚠
- p.Val758Leu Single submitter ⚠