M88K (p.Met88Lys) variant of KRT17 (Keratin, type I cytoskeletal 17)
M88K (p.Met88Lys) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes published literature and structural context.
M88K (p.Met88Lys) variant details
- p.Met88Lys
- rs28928898
- ClinGen CA216605
- ClinVar RCV000056507
- UniProt VAR 072441
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- AlphaMissense 0.17
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Structural context available
- Cited in: A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based… (PMID 18547302)
- Cited in: Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (PMID 10571744)