R31G (p.Arg31Gly) variant of WRN (Q14191)
R31G (p.Arg31Gly) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- gnomAD 8-31058538-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available