K14Q (p.Lys14Gln) variant of CFTR (P13569)
K14Q (p.Lys14Gln) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
K14Q (p.Lys14Gln) variant details
- p.Lys14Gln
- rs397508673
- ClinGen CA368981294
- ClinVar RCV002295928
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.55
- MetaSVM -0.16
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)