AFAP1L1 — 131 ClinVar variants

All ClinVar germline AFAP1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

2 Likely benign · 129 Uncertain significance

Full AFAP1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 71

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 59

The independent predictors disagree with each other — read with care.

All AFAP1L1 variants

Likely benign 2

p.Val171Met Single submitter
p.Val711Met Single submitter ⚠

Uncertain significance 129

p.Ala110Val Single submitter ⚠
p.Ala130Gly Single submitter ⚠
p.Ala184Thr Single submitter ⚠
p.Ala582Thr Single submitter ⚠
p.Ala615Val Single submitter ⚠
p.Ala670Ser Single submitter ⚠
p.Ala674Val Single submitter ⚠
p.Ala721Thr Single submitter ⚠
p.Arg106Leu Single submitter ⚠
p.Arg205Gly Single submitter ⚠
p.Arg229Gln Single submitter ⚠
p.Arg229Trp Single submitter neuromuscular disease ⚠
p.Arg232His Single submitter ⚠
p.Arg257Gln Single submitter ⚠
p.Arg257Trp Single submitter ⚠
p.Arg278Trp Single submitter ⚠
p.Arg312Gln Single submitter ⚠
p.Arg365Cys Single submitter ⚠
p.Arg366Trp Single submitter ⚠
p.Arg392His Single submitter ⚠
p.Arg396His Single submitter ⚠
p.Arg436Cys Single submitter ⚠
p.Arg439His Single submitter ⚠
p.Arg475Gln Single submitter ⚠
p.Arg484Cys Single submitter ⚠
p.Arg502Cys Single submitter ⚠
p.Arg555Gly Single submitter ⚠
p.Arg572Cys Single submitter ⚠
p.Arg572His Single submitter ⚠
p.Arg580Cys Single submitter ⚠
p.Arg591Cys Single submitter ⚠
p.Arg600Cys Single submitter ⚠
p.Arg614Gln Single submitter ⚠
p.Arg620Gln Single submitter ⚠
p.Arg620Trp Single submitter ⚠
p.Arg637Trp Single submitter ⚠
p.Arg677Gln Single submitter ⚠
p.Arg682His Single submitter ⚠
p.Arg683Gln Single submitter ⚠
p.Arg683Trp Single submitter ⚠
p.Arg696His Single submitter ⚠
p.Asn119Ser Single submitter ⚠
p.Asn606Ser Single submitter ⚠
p.Asn752Ser Single submitter ⚠
p.Asp2Tyr Single submitter ⚠
p.Asp337Asn Single submitter ⚠
p.Asp559Asn Single submitter ⚠
p.Asp618His Single submitter ⚠
p.Asp82Asn Single submitter ⚠
p.Cys585Phe Single submitter ⚠
p.Gln203Lys Single submitter ⚠
p.Gln207Pro Single submitter ⚠
p.Gln595His Single submitter ⚠
p.Glu140Lys Single submitter ⚠
p.Glu174Lys Single submitter ⚠
p.Glu305Lys Single submitter ⚠
p.Glu418Lys Single submitter ⚠
p.Glu568Lys Single submitter ⚠
p.Glu625Gly Single submitter ⚠
p.Glu627Gly Single submitter ⚠
p.Glu667Asp Single submitter ⚠
p.Gly136Ser Single submitter ⚠
p.Gly505Arg Single submitter neuromuscular disease ⚠
p.Gly512Asp Single submitter ⚠
p.Gly575Arg Single submitter ⚠
p.Gly708Glu Single submitter ⚠
p.Gly96Arg Single submitter ⚠
p.His206Gln Single submitter ⚠
p.His23Arg Single submitter ⚠
p.His476Tyr Single submitter ⚠
p.Ile142Val Single submitter ⚠
p.Ile154Thr Single submitter ⚠
p.Ile243Met Single submitter ⚠
p.Leu10Val Single submitter ⚠
p.Leu175Phe Single submitter ⚠
p.Leu249Pro Single submitter ⚠
p.Leu332Phe Single submitter ⚠
p.Leu440Pro Single submitter ⚠
p.Leu62Arg Single submitter ⚠
p.Leu640Met Single submitter ⚠
p.Leu709Arg Single submitter ⚠
p.Leu7Val Single submitter ⚠
p.Leu83His Single submitter ⚠
p.Lys441Arg Single submitter ⚠
p.Lys714Met Single submitter ⚠
p.Met185Thr Single submitter ⚠
p.Met215Thr Single submitter ⚠
p.Met35Thr Single submitter ⚠
p.Met511Thr Single submitter ⚠
p.Pro116Leu Single submitter ⚠
p.Pro118Arg Single submitter ⚠
p.Pro121Leu Single submitter ⚠
p.Pro122Ser Single submitter ⚠
p.Pro123Arg Single submitter ⚠
p.Pro123Ser Single submitter ⚠
p.Pro123Thr Single submitter ⚠
p.Pro204Ser Single submitter ⚠
p.Pro327Ser Single submitter ⚠
p.Pro330Leu Single submitter ⚠
p.Pro517Leu Single submitter ⚠
p.Pro561Ala Single submitter ⚠
p.Pro594Leu Single submitter ⚠
p.Pro715Leu Single submitter ⚠
p.Ser153Leu Single submitter ⚠
p.Ser349Leu Single submitter ⚠
p.Ser401Pro Single submitter ⚠
p.Ser604Ile Single submitter ⚠
p.Ser745Cys Single submitter ⚠
p.Thr241Met Single submitter ⚠
p.Thr29Ile Single submitter ⚠
p.Thr59Pro Single submitter ⚠
p.Thr635Met Single submitter ⚠
p.Thr720Ser Single submitter ⚠
p.Trp433Arg Single submitter ⚠
p.Tyr272Cys Single submitter ⚠
p.Tyr522Cys Single submitter ⚠
p.Tyr543His Single submitter ⚠
p.Tyr608His Single submitter ⚠
p.Val273Met Single submitter ⚠
p.Val318Ala Single submitter ⚠
p.Val318Phe Single submitter ⚠
p.Val354Met Single submitter ⚠
p.Val427Met Single submitter ⚠
p.Val534Ile Single submitter ⚠
p.Val578Leu Single submitter ⚠
p.Val669Met Single submitter ⚠
p.Val693Met Single submitter ⚠
p.Val728Ile Single submitter ⚠
p.Val749Ile Single submitter ⚠