G58D (p.Gly58Asp) variant of XPA (P23025)
G58D (p.Gly58Asp) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- TOPMed rs1365252970
- gnomAD rs1365252970
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.16
- CADD 24.90
- PolyPhen-2 0.77
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available