R125H (p.Arg125His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R125H (p.Arg125His) 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 not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R125H (p.Arg125His) variant details
- p.Arg125His
- rs58330629
- ClinGen CA216921
- ClinVar RCV000015717
- ClinVar RCV000056718
- Pathogenic
- not provided; Epidermolysis bullosa simplex, Koebner type; Dermatopathia pigment
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex, Koebner type; Derma)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely… (PMID 10730767)
- Cited in: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14… (PMID 10733662)