E466D (p.Glu466Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
E466D (p.Glu466Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E466D (p.Glu466Asp) variant details
- p.Glu466Asp
- rs62642056
- ClinGen CA216659
- ClinVar RCV000056554
- ClinVar RCV001352785
- Conflicting interpretations
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (Epidermolysis bullosa simplex 2A, generalized severe; Epidermoly)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- Structural context available
- Cited in: Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. (PMID 17855059)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)