L160F (p.Leu160Phe) variant of KRT9 (Keratin, type I cytoskeletal 9)
L160F (p.Leu160Phe) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic palmoplantar keratoderma, 1. The record also includes published literature and structural context.
L160F (p.Leu160Phe) variant details
- p.Leu160Phe
- rs28940896
- ClinGen CA115914
- ClinVar RCV000056458
- ClinVar RCV004562197
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- ClinVar: Pathogenic (Epidermolytic palmoplantar keratoderma, 1)
- EBI: Pathogenic (in EPPK1)
- UniProt: Pathogenic (in EPPK1)
- Structural context available
- Cited in: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (PMID 12838553)
- Cited in: Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. (PMID 10632938)