E477K (p.Glu477Lys) variant of KRT5 (Keratin, type II cytoskeletal 5)
E477K (p.Glu477Lys) 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 2B, generalized intermediate; not provided; Epider. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E477K (p.Glu477Lys) variant details
- p.Glu477Lys
- rs59190510
- ClinGen CA216675
- ClinVar RCV000020296
- ClinVar RCV000056565
- Pathogenic
- Epidermolysis bullosa simplex 2B, generalized intermediate; not provided; Epider
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.90
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM -0.09
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 2B, generalized intermediate; not)
- EBI: Pathogenic (in EBS2A)
- UniProt: Pathogenic (in EBS2A)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and… (PMID 12655565)
- Cited in: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID 16882168)