R125G (p.Arg125Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
R125G (p.Arg125Gly) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available record places it in the context of not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R125G (p.Arg125Gly) variant details
- p.Arg125Gly
- rs60399023
- ClinGen CA216917
- ClinVar RCV000056716
- UniProt VAR 023721
- not provided
- not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 0.95
- SIFT 0.02
- EVE 0.57
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PMID 14987259)
- Cited in: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (PMID 10583131)