S49L (p.Ser49Leu) variant of XPA (P23025)
S49L (p.Ser49Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- TOPMed rs1374751849
- gnomAD rs1374751849
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.12
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available