E475G (p.Glu475Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
E475G (p.Glu475Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex 2A, generalized severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E475G (p.Glu475Gly) variant details
- p.Glu475Gly
- rs61348633
- ClinGen CA216670
- ClinVar RCV000056562
- ClinVar RCV001731187
- Pathogenic
- Epidermolysis bullosa simplex 2A, generalized severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 2A, generalized severe)
- EBI: Pathogenic (in EBS2A)
- UniProt: Pathogenic (in EBS2A)
- Structural context available
- Cited in: A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. (PMID 1372711)
- Cited in: Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the… (PMID 20128788)