H139R (p.His139Arg) variant of CFTR (P13569)
H139R (p.His139Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
H139R (p.His139Arg) variant details
- p.His139Arg
- rs76371115
- ClinGen CA327434
- ClinVar RCV000577519
- ClinVar RCV003474600
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- ESM-1b 0.38
- AlphaMissense 0.48
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. (PMID 7541510)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)