R156H (p.Arg156His) variant of KRT10 (Keratin, type I cytoskeletal 10)
R156H (p.Arg156His) 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 Ichthyosis and erythrokeratoderma; Epidermolytic hyperkeratosis 1; Epidermolytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R156H (p.Arg156His) variant details
- p.Arg156His
- rs58075662
- ClinGen CA124134
- NCI-TCGA Cosmic COSV5409
- ClinVar RCV000015674
- Pathogenic
- Ichthyosis and erythrokeratoderma; Epidermolytic hyperkeratosis 1; Epidermolytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.94
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Ichthyosis and erythrokeratoderma; Epidermolytic hyperkeratosis)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Population evidence available
- Structural context available
- Cited in: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. (PMID 1380725)
- Cited in: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. (PMID 1381287)