A13P (p.Ala13Pro) variant of XPA (P23025)
A13P (p.Ala13Pro) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- ExAC rs754275652
- TOPMed rs754275652
- gnomAD rs754275652
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available