C34R (p.Cys34Arg) variant of WRN (Q14191)
C34R (p.Cys34Arg) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
C34R (p.Cys34Arg) variant details
- p.Cys34Arg
- gnomAD 8-31059156-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- REVEL 0.02
- CADD 9.12
- PolyPhen-2 0.05
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available