R127C (p.Arg127Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
R127C (p.Arg127Cys) 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 KRT16-related disorder; Palmoplantar keratoderma, nonepidermolytic, focal 1; Pac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R127C (p.Arg127Cys) variant details
- p.Arg127Cys
- rs59856285
- ClinGen CA124157
- NCI-TCGA Cosmic COSV5696
- Pathogenic
- KRT16-related disorder; Palmoplantar keratoderma, nonepidermolytic, focal 1; Pac
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.86
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Pathogenic (KRT16-related disorder; Palmoplantar keratoderma, nonepidermolyt)
- EBI: Pathogenic (in FNEPPK1 and PC1)
- UniProt: Pathogenic (in FNEPPK1 and PC1)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (PMID 21160496)