D5A (p.Asp5Ala) variant of XPA (P23025)
D5A (p.Asp5Ala) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- TOPMed rs905489379
- gnomAD rs905489379
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- REVEL 0.07
- CADD 2.66
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available