K5R (p.Lys5Arg) variant of WRN (Q14191)
K5R (p.Lys5Arg) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD 8-31058461-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0622
- REVEL 0.04
- CADD 5.20
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available