R125C (p.Arg125Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
R125C (p.Arg125Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of KRT14-related disorder; Epidermolysis bullosa simplex, Koebner type; Epidermolys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R125C (p.Arg125Cys) variant details
- p.Arg125Cys
- rs60399023
- ClinGen CA216919
- ClinVar RCV000015716
- ClinVar RCV000056717
- Pathogenic
- KRT14-related disorder; Epidermolysis bullosa simplex, Koebner type; Epidermolys
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 0.95
- ClinVar: Pathogenic (KRT14-related disorder; Epidermolysis bullosa simplex, Koebner t)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (PMID 10583131)
- Cited in: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14… (PMID 10733662)