MFAP1 — 20 ClinVar variants
All ClinVar germline MFAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Likely benign · 19 Uncertain significance
Full MFAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MFAP1 p.Arg316Lys Uncertain significance Single submitter
- MFAP1 p.Arg436Gln Uncertain significance Single submitter
- MFAP1 p.Arg87Gln Uncertain significance Single submitter
- MFAP1 p.Gln14His Uncertain significance Single submitter
- MFAP1 p.Glu163Asp Uncertain significance Single submitter
- MFAP1 p.Glu78Asp Uncertain significance Single submitter
- MFAP1 p.Glu98Gly Uncertain significance Single submitter
- MFAP1 p.Gly173Val Uncertain significance Single submitter
- MFAP1 p.Gly323Ser Uncertain significance Single submitter
- MFAP1 p.Ile373Val Uncertain significance Single submitter
- MFAP1 p.Ile93Asn Uncertain significance Single submitter
- MFAP1 p.Met127Ile Uncertain significance Single submitter
- MFAP1 p.Ser361Gly Uncertain significance Single submitter
- MFAP1 p.Ser94Arg Uncertain significance Single submitter
- MFAP1 p.Tyr185Cys Uncertain significance Single submitter
- MFAP1 p.Val166Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MFAP1 variants
Likely benign 1
- p.Gln76= Single submitter
Uncertain significance 19
- p.Arg306His Single submitter ⚠
- p.Arg316Lys Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Gln14His Single submitter ⚠
- p.Glu163Asp Single submitter ⚠
- p.Glu318Ala Single submitter
- p.Glu78Asp Single submitter ⚠
- p.Glu98Gly Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly323Ser Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Ile93Asn Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Ser361Gly Single submitter ⚠
- p.Ser94Arg Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Val166Ile Single submitter ⚠