L187P (p.Leu187Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
L187P (p.Leu187Pro) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 1. The record also includes published literature and structural context.
L187P (p.Leu187Pro) variant details
- p.Leu187Pro
- rs2498637710
- ClinGen CA384974941
- ClinVar RCV003445237
- Pathogenic
- Epidermolytic hyperkeratosis 1
- Missense
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. (PMID 30288772)