E60K (p.Glu60Lys) variant of CFTR (P13569)
E60K (p.Glu60Lys) 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 0.86 / 1. The record also includes published literature and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs77284892
- ClinGen CA326672
- ClinVar RCV000577024
- ClinVar RCV004566869
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.88
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)