N154H (p.Asn154His) variant of KRT10 (Keratin, type I cytoskeletal 10)
N154H (p.Asn154His) 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 Epidermolytic hyperkeratosis 2A, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
N154H (p.Asn154His) variant details
- p.Asn154His
- rs57784225
- ClinGen CA124130
- ClinVar RCV000056493
- ClinVar RCV004593964
- Pathogenic
- Epidermolytic hyperkeratosis 2A, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 2A, autosomal dominant)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available
- Cited in: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. (PMID 7508181)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)