R94H (p.Arg94His) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94H (p.Arg94His) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Steatocystoma multiplex; Pachyonychia congenita 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R94H (p.Arg94His) variant details
- p.Arg94His
- rs28928897
- ClinGen CA124154
- NCI-TCGA Cosmic COSV6086
- ClinVar RCV000015692
- Pathogenic/Likely pathogenic
- Steatocystoma multiplex; Pachyonychia congenita 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.94
- AlphaMissense 0.90
- MetaLR 0.92
- MetaSVM 1.05
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Steatocystoma multiplex; Pachyonychia congenita 2; not provided)
- EBI: Pathogenic (in SM and PC2)
- UniProt: Pathogenic (in SM and PC2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID 11886499)
- Cited in: Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (PMID 19470054)