AFAP1 — 171 ClinVar variants

All ClinVar germline AFAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

1 Conflicting · 2 Benign · 10 Likely benign · 158 Uncertain significance

Full AFAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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 90

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

Predictors split 47

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

All AFAP1 variants

Conflicting classifications of pathogenicity 1

p.Gly516Ser Single submitter

Benign 2

p.Glu705= Multiple submitters
p.His215= Single submitter

Likely benign 10

p.Ala783= Multiple submitters
p.Asn686= Multiple submitters
p.Ala693Val Single submitter
p.Asn489= Single submitter
p.Asn812= Single submitter
p.Asp45Glu Single submitter
p.Gln701Arg Single submitter
p.Glu697Asp Single submitter ⚠
p.Ser461Asn Single submitter
p.Ser566Cys Single submitter

Uncertain significance 158

p.Val288Ala Multiple submitters ⚠
p.Ala438Ser Single submitter ⚠
p.Ala534Ser Single submitter
p.Ala587Val Single submitter
p.Ala603Val Single submitter ⚠
p.Ala624Val Single submitter ⚠
p.Ala682Thr Single submitter ⚠
p.Ala687Thr Single submitter ⚠
p.Ala693Thr Single submitter ⚠
p.Ala711Val Single submitter ⚠
p.Ala730Val Single submitter ⚠
p.Ala740Ser Single submitter ⚠
p.Ala740Thr Single submitter ⚠
p.Ala782Val Single submitter ⚠
p.Ala791Val Single submitter ⚠
p.Arg162Trp Single submitter ⚠
p.Arg361Cys Single submitter ⚠
p.Arg363Gln Single submitter ⚠
p.Arg365His Single submitter ⚠
p.Arg368Gln Single submitter ⚠
p.Arg393Leu Single submitter ⚠
p.Arg410Trp Single submitter ⚠
p.Arg475Gly Single submitter ⚠
p.Arg548Leu Single submitter
p.Arg650Gln Single submitter ⚠
p.Arg666Trp Single submitter ⚠
p.Arg673His Single submitter ⚠
p.Arg676Ser Single submitter ⚠
p.Arg680Gln Single submitter ⚠
p.Arg680Leu Single submitter ⚠
p.Arg707Trp Single submitter ⚠
p.Arg713His Single submitter ⚠
p.Arg798Gln Single submitter ⚠
p.Arg9Pro Single submitter ⚠
p.Asn112Ser Single submitter ⚠
p.Asn580Asp Single submitter
p.Asn580Ser Single submitter
p.Asp114Glu Single submitter ⚠
p.Asp126Gly Single submitter ⚠
p.Asp48Glu Single submitter ⚠
p.Asp503Asn Single submitter ⚠
p.Asp78Glu Single submitter ⚠
p.Asp78Gly Single submitter ⚠
p.Cys251Tyr Single submitter ⚠
p.Cys521Tyr Single submitter
p.Cys797Ser Single submitter ⚠
p.Gln140Leu Single submitter ⚠
p.Gln239Arg Single submitter ⚠
p.Gln464Arg Single submitter ⚠
p.Gln53His Single submitter ⚠
p.Gln576Arg Single submitter
p.Gln671Glu Single submitter ⚠
p.Gln72His Single submitter ⚠
p.Glu128Asp Single submitter ⚠
p.Glu396Lys Single submitter ⚠
p.Glu512Lys Single submitter
p.Glu742Lys Single submitter ⚠
p.Glu95Gln Single submitter ⚠
p.Gly103Arg Single submitter ⚠
p.Gly167Arg Single submitter ⚠
p.Gly200Val Single submitter ⚠
p.Gly314Cys Single submitter ⚠
p.Gly331Arg Single submitter ⚠
p.Gly496Glu Single submitter ⚠
p.Gly733Asp Single submitter ⚠
p.Gly734Arg Single submitter ⚠
p.Gly799Glu Single submitter ⚠
p.Gly813Arg Single submitter ⚠
p.His17Gln Single submitter ⚠
p.His405Arg Single submitter ⚠
p.His450Asp Single submitter ⚠
p.Ile156Met Single submitter ⚠
p.Ile203Val Single submitter ⚠
p.Ile390Thr Single submitter ⚠
p.Ile454Thr Single submitter ⚠
p.Ile454Val Single submitter ⚠
p.Ile463Phe Single submitter ⚠
p.Ile478Thr Single submitter ⚠
p.Ile478Val Single submitter ⚠
p.Ile545Val Single submitter
p.Ile683Val Single submitter ⚠
p.Leu10Arg Single submitter ⚠
p.Leu172Phe Single submitter ⚠
p.Leu272Arg Single submitter ⚠
p.Leu330Arg Single submitter ⚠
p.Leu449Val Single submitter ⚠
p.Leu589Ile Single submitter
p.Leu672Phe Single submitter ⚠
p.Lys133Arg Single submitter ⚠
p.Lys177Arg Single submitter ⚠
p.Lys211Arg Single submitter ⚠
p.Lys27Gln Single submitter ⚠
p.Lys309Ile Single submitter ⚠
p.Lys322Thr Single submitter ⚠
p.Lys620Gln Single submitter ⚠
p.Lys690Asn Single submitter ⚠
p.Lys698Arg Single submitter ⚠
p.Lys724Glu Single submitter ⚠
p.Lys728Arg Single submitter ⚠
p.Lys744Asn Single submitter ⚠
p.Lys787Asn Single submitter ⚠
p.Lys811Arg Single submitter ⚠
p.Phe517Leu Single submitter
p.Pro106Leu Single submitter ⚠
p.Pro266Leu Single submitter ⚠
p.Pro281Arg Single submitter ⚠
p.Pro335Leu Single submitter ⚠
p.Pro391Leu Single submitter ⚠
p.Pro482Ala Single submitter ⚠
p.Pro505Leu Single submitter ⚠
p.Pro513Leu Single submitter
p.Pro541Leu Single submitter
p.Pro542Leu Single submitter
p.Pro543Leu Single submitter
p.Pro572Ser Single submitter
p.Pro600Ala Single submitter ⚠
p.Pro743Ser Single submitter ⚠
p.Pro77Leu Single submitter ⚠
p.Pro792Ser Single submitter ⚠
p.Pro796Ser Single submitter ⚠
p.Pro81Leu Single submitter ⚠
p.Pro85Ala Single submitter ⚠
p.Pro90Ser Single submitter ⚠
p.Pro99Leu Single submitter ⚠
p.Ser119Ile Single submitter ⚠
p.Ser443Ala Single submitter ⚠
p.Ser461Gly Single submitter ⚠
p.Ser495Asn Single submitter ⚠
p.Ser574Phe Single submitter
p.Ser577Tyr Single submitter
p.Ser588Cys Single submitter
p.Ser58Gly Single submitter ⚠
p.Ser58Thr Single submitter ⚠
p.Ser593Leu Single submitter
p.Ser726Asn Single submitter ⚠
p.Ser763Leu Single submitter ⚠
p.Ser795Phe Single submitter ⚠
p.Thr487Ile Single submitter ⚠
p.Thr497Met Single submitter ⚠
p.Thr613Asn Single submitter ⚠
p.Thr630Met Single submitter ⚠
p.Thr721Met Single submitter ⚠
p.Thr759Ile Single submitter ⚠
p.Thr814Asn Single submitter ⚠
p.Trp74Ser Single submitter ⚠
p.Trp808Arg Single submitter ⚠
p.Tyr113Asn Single submitter ⚠
p.Tyr491Cys Single submitter ⚠
p.Tyr501Cys Single submitter ⚠
p.Tyr531Cys Single submitter
p.Tyr537Ser Single submitter
p.Val175Ile Single submitter ⚠
p.Val231Ile Single submitter ⚠
p.Val289Leu Single submitter ⚠
p.Val369Met Single submitter ⚠
p.Val46Met Single submitter ⚠
p.Val723Ile Single submitter ⚠
p.Val784Ile Single submitter ⚠