A33T (p.Ala33Thr) variant of WRN (Q14191)
A33T (p.Ala33Thr) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs2130004641
- ClinGen CA370912311
- ClinVar RCV001984250
- ClinVar RCV006269543
- Uncertain significance
- not specified; Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (not specified; Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)