L168S (p.Leu168Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
L168S (p.Leu168Ser) 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 0.90 / 1. The record also includes published literature and structural context.
L168S (p.Leu168Ser) variant details
- p.Leu168Ser
- rs61157095
- ClinGen CA115910
- ClinVar RCV000056469
- ClinVar RCV004562193
- Pathogenic
- Epidermolytic palmoplantar keratoderma, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- MutPred 0.90
- 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: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. (PMID 7532199)