K14I (p.Lys14Ile) variant of CFTR (P13569)
K14I (p.Lys14Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a. 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.
K14I (p.Lys14Ile) variant details
- p.Lys14Ile
- rs772774651
- ClinGen CA164948959
- ClinVar RCV000588867
- ClinVar RCV000819753
- Uncertain significance
- Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.56
- ESM-1b 0.35
- AlphaMissense 0.34
- MetaLR 0.52
- MetaSVM -0.11
- CADD 25.60
- ClinVar: Uncertain significance (Bronchiectasis with or without elevated sweat chloride 1; Congen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)