M113K (p.Met113Lys) variant of XPA (P23025)
M113K (p.Met113Lys) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M113K (p.Met113Lys) variant details
- p.Met113Lys
- gnomAD 9-97689585-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.66
- MetaLR 0.55
- MetaSVM -0.19
- CADD 22.50
- PolyPhen-2 0.31
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available