V54M (p.Val54Met) variant of WRN (Q14191)
V54M (p.Val54Met) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- ExAC rs762851957
- gnomAD rs762851957
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- CADD 21.60
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available