R156P (p.Arg156Pro) variant of KRT10 (Keratin, type I cytoskeletal 10)
R156P (p.Arg156Pro) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available record places it in the context of Autosomal dominant epidermolytic ichthyosis; KRT10-related disorder; Epidermolyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R156P (p.Arg156Pro) variant details
- p.Arg156Pro
- rs58075662
- ClinGen CA216592
- ClinVar RCV000056498
- UniProt VAR 003829
- not provided
- Autosomal dominant epidermolytic ichthyosis; KRT10-related disorder; Epidermolyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available
- Cited in: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). (PMID 7507152)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)