R163L (p.Arg163Leu) variant of KRT9 (Keratin, type I cytoskeletal 9)
R163L (p.Arg163Leu) 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; not provided. The record also includes structural context.
R163L (p.Arg163Leu) variant details
- p.Arg163Leu
- rs57758262
- ClinVar RCV004560480
- ClinVar RCV005100836
- Pathogenic/Likely pathogenic
- Epidermolytic palmoplantar keratoderma, 1; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Epidermolytic palmoplantar keratoderma, 1; not provided)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Structural context available