S38G (p.Ser38Gly) variant of WRN (Q14191)
S38G (p.Ser38Gly) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- gnomAD 8-31059168-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.25
- CADD 27.80
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available