M150R (p.Met150Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
M150R (p.Met150Arg) 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 0.92 / 1. The record also includes published literature and structural context.
M150R (p.Met150Arg) variant details
- p.Met150Arg
- rs58901407
- ClinGen CA124140
- ClinVar RCV000056491
- ClinVar RCV004593968
- Pathogenic
- Epidermolytic hyperkeratosis 2A, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 2A, autosomal dominant)
- 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: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location… (PMID 7512983)