S49W (p.Ser49Trp) variant of XPA (P23025)
S49W (p.Ser49Trp) 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.
S49W (p.Ser49Trp) variant details
- p.Ser49Trp
- TOPMed rs1374751849
- gnomAD rs1374751849
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.20
- CADD 28.80
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available