E111K (p.Glu111Lys) variant of XPA (P23025)
E111K (p.Glu111Lys) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- ExAC rs769255883
- TOPMed rs769255883
- gnomAD rs769255883
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.41
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00035)
- Structural context available