R331H (p.Arg331His) variant of KRT5 (Keratin, type II cytoskeletal 5)
R331H (p.Arg331His) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R331H (p.Arg331His) variant details
- p.Arg331His
- rs56729325
- ClinGen CA216816
- ClinVar RCV000056661
- ClinVar RCV003894912
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.62
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa; not provided)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for… (PMID 16786515)
- Cited in: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (PMID 21375516)