L24V (p.Leu24Val) variant of CFTR (P13569)
L24V (p.Leu24Val) 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; Cystic fibrosis; Conge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- rs1056986309
- ClinGen CA164963557
- ClinVar RCV001240548
- ClinVar RCV001828955
- Uncertain significance
- Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Conge
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.75
- ESM-1b 0.63
- AlphaMissense 0.33
- MetaLR 0.82
- MetaSVM 0.78
- CADD 23.60
- ClinVar: Uncertain significance (Bronchiectasis with or without elevated sweat chloride 1; Cystic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)