P21L (p.Pro21Leu) variant of XPA (P23025)
P21L (p.Pro21Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD rs1453891229
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.19
- CADD 24.90
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available