I28M (p.Ile28Met) variant of XPA (P23025)
I28M (p.Ile28Met) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- gnomAD rs1373166407
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- CADD 19.10
- PolyPhen-2 0.40
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available