L160V (p.Leu160Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
L160V (p.Leu160Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L160V (p.Leu160Val) variant details
- p.Leu160Val
- rs28940896
- ClinGen CA115911
- ClinVar RCV000056457
- ClinVar RCV004562194
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- MutPred 0.99
- 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: A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (PMID 9204965)