E144A (p.Glu144Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
E144A (p.Glu144Ala) 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 1D, generalized, intermediate or severe, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E144A (p.Glu144Ala) variant details
- p.Glu144Ala
- rs57121345
- ClinGen CA216959
- ClinVar RCV000015718
- ClinVar RCV000056739
- Pathogenic
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.93
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 1D, generalized, intermediate or s)
- EBI: Pathogenic (in EBS1D)
- UniProt: Pathogenic (in EBS1D)
- Structural context available
- Cited in: A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (PMID 7526933)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)