R156C (p.Arg156Cys) variant of KRT10 (Keratin, type I cytoskeletal 10)
R156C (p.Arg156Cys) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant epidermolytic ichthyosis; KRT10-related disorder; Epidermolyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R156C (p.Arg156Cys) variant details
- p.Arg156Cys
- rs58852768
- ClinGen CA124138
- ClinVar RCV000056496
- ClinVar RCV000763396
- Pathogenic
- Autosomal dominant epidermolytic ichthyosis; KRT10-related disorder; Epidermolyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Autosomal dominant epidermolytic ichthyosis; KRT10-related disor)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available
- Cited in: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28… (PMID 21271994)
- Cited in: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. (PMID 7508181)