R156G (p.Arg156Gly) variant of KRT10 (Keratin, type I cytoskeletal 10)
R156G (p.Arg156Gly) 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 0.95 / 1. The record also includes structural context.
R156G (p.Arg156Gly) variant details
- p.Arg156Gly
- rs58852768
- ClinGen CA218574
- ClinVar RCV000057504
- Ensembl rs58852768
- not provided
- Autosomal dominant epidermolytic ichthyosis; KRT10-related disorder; Epidermolyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available