L145H (p.Leu145His) variant of CFTR (P13569)
L145H (p.Leu145His) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cystic fibrosis; Bronchiectasis with or without elevated sweat chloride 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L145H (p.Leu145His) variant details
- p.Leu145His
- rs397508712
- ClinGen CA327481
- ClinVar RCV003475690
- ClinVar RCV004823160
- Likely pathogenic
- Cystic fibrosis; Bronchiectasis with or without elevated sweat chloride 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cystic fibrosis; Bronchiectasis with or without elevated sweat c)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)