R94C (p.Arg94Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94C (p.Arg94Cys) 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 Inborn genetic diseases; not provided; Steatocystoma multiplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R94C (p.Arg94Cys) variant details
- p.Arg94Cys
- rs58730926
- ClinGen CA124156
- NCI-TCGA Cosmic COSV6086
- ClinVar RCV000015694
- Pathogenic
- Inborn genetic diseases; not provided; Steatocystoma multiplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.86
- CADD 24.60
- PolyPhen-2 0.24
- SIFT 0.04
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Steatocystoma multiplex)
- EBI: Pathogenic (in PC2 and SM)
- UniProt: Pathogenic (in PC2 and SM)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (PMID 9767294)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)