K26E (p.Lys26Glu) variant of CFTR (P13569)
K26E (p.Lys26Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CFTR-related disorder; not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- rs759726535
- ClinGen CA4450631
- ClinVar RCV000698034
- ClinVar RCV001527046
- Uncertain significance
- CFTR-related disorder; not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.92
- MetaSVM 1.00
- CADD 29.10
- ClinVar: Uncertain significance (CFTR-related disorder; not specified; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)