A55S (p.Ala55Ser) variant of XPA (P23025)
A55S (p.Ala55Ser) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- 1000Genomes rs577348290
- ExAC rs577348290
- gnomAD rs577348290
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.93
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available