A59D (p.Ala59Asp) variant of WRN (Q14191)
A59D (p.Ala59Asp) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A59D (p.Ala59Asp) variant details
- p.Ala59Asp
- ExAC rs759022881
- gnomAD rs759022881
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available