S63Y (p.Ser63Tyr) variant of WRN (Q14191)
S63Y (p.Ser63Tyr) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S63Y (p.Ser63Tyr) variant details
- p.Ser63Tyr
- gnomAD 8-31059244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.38
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available