K67R (p.Lys67Arg) variant of XPA (P23025)
K67R (p.Lys67Arg) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K67R (p.Lys67Arg) variant details
- p.Lys67Arg
- gnomAD rs1321202142
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.11
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available