K14E (p.Lys14Glu) variant of CFTR (P13569)
K14E (p.Lys14Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- rs397508673
- ClinGen CA368981296
- ClinVar RCV000586965
- ClinVar RCV001002549
- Uncertain significance
- not specified; not provided; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.55
- MetaSVM -0.16
- CADD 24.00
- ClinVar: Uncertain significance (not specified; not provided; Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)