H139L (p.His139Leu) variant of CFTR (P13569)
H139L (p.His139Leu) 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; not provided; CFTR-rel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
H139L (p.His139Leu) variant details
- p.His139Leu
- rs76371115
- ClinGen CA327435
- ClinVar RCV000577674
- ClinVar RCV000985694
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; not provided; CFTR-rel
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; not pr)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- 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)