D43V (p.Asp43Val) variant of WRN (Q14191)
D43V (p.Asp43Val) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- gnomAD 8-31059184-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available