E106K (p.Glu106Lys) variant of XPA (P23025)
E106K (p.Glu106Lys) in XPA (P23025) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- rs372447411
- ESP rs372447411
- ExAC rs372447411
- TOPMed rs372447411
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available