V54A (p.Val54Ala) variant of WRN (Q14191)
V54A (p.Val54Ala) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V54A (p.Val54Ala) variant details
- p.Val54Ala
- gnomAD 8-31059217-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available