E116K (p.Glu116Lys) variant of CFTR (P13569)
E116K (p.Glu116Lys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- rs397508571
- ClinGen CA327204
- ClinVar RCV000577691
- ClinVar RCV000755922
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.99
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)