E422K (p.Glu422Lys) variant of KRT14 (Keratin, type I cytoskeletal 14)
E422K (p.Glu422Lys) 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 Epidermolysis bullosa simplex 1C, localized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E422K (p.Glu422Lys) variant details
- p.Glu422Lys
- rs58762773
- ClinGen CA216874
- ClinVar RCV000056692
- ClinVar RCV001731186
- Pathogenic
- Epidermolysis bullosa simplex 1C, localized
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.90
- CADD 28.20
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 1C, localized)
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14… (PMID 10733662)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)