A59V (p.Ala59Val) variant of WRN (Q14191)
A59V (p.Ala59Val) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- ExAC rs759022881
- gnomAD rs759022881
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available