L1065R (p.Leu1065Arg) variant of CFTR (P13569)
L1065R (p.Leu1065Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L1065R (p.Leu1065Arg) variant details
- p.Leu1065Arg
- rs121909036
- ClinGen CA327084
- ClinVar RCV000577502
- ClinVar RCV003466909
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Cystic)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. (PMID 9452054)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)