M113I (p.Met113Ile) variant of XPA (P23025)
M113I (p.Met113Ile) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M113I (p.Met113Ile) variant details
- p.Met113Ile
- TOPMed rs1828819561
- gnomAD rs1828819561
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- CADD 25.70
- PolyPhen-2 0.65
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available