E10K (p.Glu10Lys) variant of XPA (P23025)
E10K (p.Glu10Lys) 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 0.33 / 1. The record also includes structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs771752416
- NCI-TCGA Cosmic COSV6430
- ExAC rs771752416
- gnomAD rs771752416
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available