Y57D (p.Tyr57Asp) variant of WRN (Q14191)
Y57D (p.Tyr57Asp) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y57D (p.Tyr57Asp) variant details
- p.Tyr57Asp
- gnomAD 8-31059225-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.31
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available