K116* (p.Lys116Ter) variant of KRT14 (Keratin, type I cytoskeletal 14)
K116* (p.Lys116Ter) in KRT14 (Keratin, type I cytoskeletal 14) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in EBS1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
K116* (p.Lys116Ter) variant details
- p.Lys116Ter
- rs60338701
- ClinGen CA216895
- ClinVar RCV000056705
- ClinVar RCV001352789
- Pathogenic
- in EBS1C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)