Y48N (p.Tyr48Asn) variant of XPA (P23025)
Y48N (p.Tyr48Asn) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y48N (p.Tyr48Asn) variant details
- p.Tyr48Asn
- ExAC rs770415986
- gnomAD rs770415986
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- CADD 25.60
- PolyPhen-2 0.42
- SIFT 0.04
- Population evidence available
- Structural context available