ARFRP1 — 35 ClinVar variants
All ClinVar germline ARFRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Benign · 1 Likely benign · 33 Uncertain significance
Full ARFRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARFRP1 p.Ala123Val Uncertain significance Single submitter
- ARFRP1 p.Ala167Gly Uncertain significance Single submitter
- ARFRP1 p.Arg196Gln Uncertain significance Single submitter
- ARFRP1 p.Cys125Tyr Uncertain significance Single submitter
- ARFRP1 p.Cys186Arg Uncertain significance Single submitter
- ARFRP1 p.Gln136Arg Uncertain significance Single submitter
- ARFRP1 p.Glu17Val Uncertain significance Single submitter
- ARFRP1 p.Gly77Arg Uncertain significance Single submitter
- ARFRP1 p.Ile180Thr Uncertain significance Single submitter
- ARFRP1 p.Leu71Phe Uncertain significance Single submitter
- ARFRP1 p.Lys185Arg Uncertain significance Single submitter
- ARFRP1 p.Pro195Gln Uncertain significance Single submitter
- ARFRP1 p.Pro195Leu Uncertain significance Single submitter
- ARFRP1 p.Thr140Met Uncertain significance Single submitter
- ARFRP1 p.Trp86Ser Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ARFRP1 p.Arg161Gln Uncertain significance Single submitter
- ARFRP1 p.Arg177Cys Uncertain significance Single submitter
- ARFRP1 p.Arg70Trp Uncertain significance Single submitter
- ARFRP1 p.Asp104Asn Uncertain significance Single submitter
- ARFRP1 p.Cys186Tyr Uncertain significance Single submitter
- ARFRP1 p.Glu110Lys Uncertain significance Single submitter
- ARFRP1 p.Glu80Lys Uncertain significance Single submitter
- ARFRP1 p.Gly126Ser Uncertain significance Single submitter
- ARFRP1 p.Gly159Asp Uncertain significance Single submitter
- ARFRP1 p.Leu50Val Uncertain significance Single submitter
- ARFRP1 p.Leu71Val Uncertain significance Single submitter
- ARFRP1 p.Lys112Glu Uncertain significance Single submitter
- ARFRP1 p.Lys46Glu Uncertain significance Single submitter
- ARFRP1 p.Pro194Leu Uncertain significance Single submitter
- ARFRP1 p.Ser49Arg Uncertain significance Single submitter
- ARFRP1 p.Ser49Cys Uncertain significance Single submitter
- ARFRP1 p.Thr149Met Uncertain significance Single submitter
- ARFRP1 p.Val176Leu Uncertain significance Single submitter
All ARFRP1 variants
Benign 1
- p.Thr149= Multiple submitters
Likely benign 1
- p.Val129Ile Single submitter
Uncertain significance 33
- p.Ala123Val Single submitter ⚠
- p.Ala167Gly Single submitter ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Asp104Asn Single submitter ⚠
- p.Cys125Tyr Single submitter ⚠
- p.Cys186Arg Single submitter ⚠
- p.Cys186Tyr Single submitter ⚠
- p.Gln136Arg Single submitter ⚠
- p.Glu110Lys Single submitter ⚠
- p.Glu17Val Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Gly126Ser Single submitter ⚠
- p.Gly159Asp Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.Ile180Thr Single submitter ⚠
- p.Leu50Val Single submitter ⚠
- p.Leu71Phe Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Lys112Glu Single submitter ⚠
- p.Lys185Arg Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro195Gln Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser49Cys Single submitter ⚠
- p.Thr140Met Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Trp86Ser Single submitter ⚠
- p.Val176Leu Single submitter ⚠