K439E (p.Lys439Glu) variant of KRT10 (Keratin, type I cytoskeletal 10)
K439E (p.Lys439Glu) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
K439E (p.Lys439Glu) variant details
- p.Lys439Glu
- rs61434181
- ClinGen CA124142
- ClinVar RCV000056478
- ClinVar RCV004593969
- Pathogenic
- Epidermolytic hyperkeratosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 1)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Cited in: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location… (PMID 7512983)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)