E11A (p.Glu11Ala) variant of ERCC5 (P28715)
E11A (p.Glu11Ala) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group G. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- rs1266019512
- ClinGen CA388565082
- ClinVar RCV001109704
- Ensembl rs1266019512
- Uncertain significance
- Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.20
- MetaLR 0.22
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group G)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)