L91P (p.Leu91Pro) variant of KRT17 (Keratin, type I cytoskeletal 17)
L91P (p.Leu91Pro) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PC2. The record also includes published literature and structural context.
L91P (p.Leu91Pro) variant details
- p.Leu91Pro
- UniProt VAR 072442
- Pathogenic
- in PC2
- Missense
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Structural context available
- Cited in: Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. (PMID 23855588)
- Cited in: Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (PMID 10571744)