L6V (p.Leu6Val) variant of CFTR (P13569)
L6V (p.Leu6Val) 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 0.28 / 1. The record also includes published literature and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- rs1554373095
- ClinGen CA368981186
- ClinVar RCV000674389
- Ensembl rs1554373095
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.28
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Likely benign
- UniProt: Likely benign
- 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)