S27G (p.Ser27Gly) variant of XPA (P23025)
S27G (p.Ser27Gly) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- gnomAD rs1274100357
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available