M88T (p.Met88Thr) variant of KRT17 (Keratin, type I cytoskeletal 17)
M88T (p.Met88Thr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes published literature and structural context.
M88T (p.Met88Thr) variant details
- p.Met88Thr
- rs28928898
- ClinGen CA216606
- ClinVar RCV000015696
- ClinVar RCV000056508
- Pathogenic
- Pachyonychia congenita 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- AlphaMissense 0.17
- ClinVar: Pathogenic (Pachyonychia congenita 2)
- EBI: Pathogenic (in PC2 and SM)
- UniProt: Pathogenic (in PC2 and SM)
- Structural context available
- Cited in: Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (PMID 10571744)
- Cited in: Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and… (PMID 16620218)