D114G (p.Asp114Gly) variant of XPA (P23025)
D114G (p.Asp114Gly) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D114G (p.Asp114Gly) variant details
- p.Asp114Gly
- TOPMed rs1442427159
- gnomAD rs1442427159
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available