E474K (p.Glu474Lys) variant of CFTR (P13569)
E474K (p.Glu474Lys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E474K (p.Glu474Lys) variant details
- p.Glu474Lys
- rs756206533
- ClinGen CA164967631
- ClinVar RCV000785640
- ClinVar RCV005036116
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.79
- MetaSVM 0.73
- CADD 29.10
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)