R156L (p.Arg156Leu) variant of KRT10 (Keratin, type I cytoskeletal 10)
R156L (p.Arg156Leu) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
R156L (p.Arg156Leu) variant details
- p.Arg156Leu
- rs58075662
- ClinGen CA216594
- ClinVar RCV000056499
- ClinVar RCV004593984
- Uncertain significance
- 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: Uncertain significance (not provided)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available
- Cited in: A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (PMID 7509230)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)