R163W (p.Arg163Trp) variant of KRT9 (Keratin, type I cytoskeletal 9)
R163W (p.Arg163Trp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratoderma; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R163W (p.Arg163Trp) variant details
- p.Arg163Trp
- rs59616921
- ClinGen CA115903
- ClinVar RCV000003132
- ClinVar RCV000056465
- Pathogenic/Likely pathogenic
- Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratoderma; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Epidermolytic palmoplantar keratoderma, 1; Palmoplantar keratode)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Structural context available
- Cited in: Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. (PMID 10844507)
- Cited in: Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9… (PMID 12072061)