R125S (p.Arg125Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
R125S (p.Arg125Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
R125S (p.Arg125Ser) variant details
- p.Arg125Ser
- rs60399023
- ClinGen CA399482518
- ClinVar RCV001823427
- UniProt VAR 010444
- Uncertain significance
- 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: Uncertain significance (Epidermolysis bullosa simplex, Koebner type)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (PMID 7561171)
- Cited in: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (PMID 10583131)