R127G (p.Arg127Gly) variant of KRT16 (Keratin, type I cytoskeletal 16)
R127G (p.Arg127Gly) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs59856285
- ClinGen CA10588649
- ClinVar RCV000255715
- ClinVar RCV002494798
- Pathogenic
- not provided; Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- MutPred 0.97
- ClinVar: Pathogenic (not provided; Pachyonychia congenita 1; Palmoplantar keratoderma)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)