AWAT2 — 25 ClinVar variants
All ClinVar germline AWAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
3 Likely benign · 22 Uncertain significance
Full AWAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AWAT2 p.Ala12Ser Uncertain significance Single submitter
- AWAT2 p.Ala159Ser Uncertain significance Single submitter
- AWAT2 p.Arg191Ser Uncertain significance Single submitter
- AWAT2 p.Arg65Gln Uncertain significance Single submitter
- AWAT2 p.Arg77Ser Uncertain significance Single submitter
- AWAT2 p.Leu330Pro Uncertain significance Single submitter
- AWAT2 p.Met179Ile Uncertain significance Single submitter
- AWAT2 p.Phe249Leu Uncertain significance Single submitter
- AWAT2 p.Thr29Ile Uncertain significance Single submitter
- AWAT2 p.Tyr307His Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- AWAT2 p.Arg205Gln Uncertain significance Single submitter
- AWAT2 p.Arg205Trp Uncertain significance Single submitter
- AWAT2 p.Arg244His Uncertain significance Single submitter
- AWAT2 p.Arg68Cys Uncertain significance Single submitter
- AWAT2 p.Asp229Asn Uncertain significance Single submitter
- AWAT2 p.Glu298Lys Uncertain significance Single submitter
- AWAT2 p.His173Tyr Uncertain significance Single submitter
- AWAT2 p.Ile167Thr Uncertain significance Single submitter
- AWAT2 p.Met211Thr Likely benign Single submitter
- AWAT2 p.Pro221Ala Uncertain significance Single submitter
- AWAT2 p.Ser5Tyr Uncertain significance Single submitter
- AWAT2 p.Val15Phe Uncertain significance Single submitter
- AWAT2 p.Val217Leu Uncertain significance Single submitter
All AWAT2 variants
Likely benign 3
- c.648-130C>T Single submitter
- p.Ile33Thr Single submitter
- p.Met211Thr Single submitter ⚠
Uncertain significance 22
- p.Ala12Ser Single submitter ⚠
- p.Ala159Ser Single submitter ⚠
- p.Arg191Ser Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg244His Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg77Ser Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Glu298Lys Single submitter ⚠
- p.His173Tyr Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Leu330Pro Single submitter ⚠
- p.Met179Ile Single submitter ⚠
- p.Phe249Leu Single submitter ⚠
- p.Pro221Ala Single submitter ⚠
- p.Ser5Tyr Single submitter ⚠
- p.Thr29Ile Single submitter ⚠
- p.Tyr307His Single submitter ⚠
- p.Val15Phe Single submitter ⚠
- p.Val217Leu Single submitter ⚠