K116E (p.Lys116Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
K116E (p.Lys116Glu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
K116E (p.Lys116Glu) variant details
- p.Lys116Glu
- rs60338701
- ClinGen CA216893
- ClinVar RCV000056704
- Ensembl rs60338701
- not provided
- Missense
- 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
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Structural context available