V54V (p.Val54Val) variant of WRN (Q14191)
V54V (p.Val54Val) in WRN (Q14191) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V54V (p.Val54Val) variant details
- p.Val54Val
- rs2130005359
- gnomAD 8-31059218-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available