V39A (p.Val39Ala) variant of WRN (Q14191)
V39A (p.Val39Ala) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD 8-31059172-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.20
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available