G194R (p.Gly194Arg) variant of CFTR (P13569)
G194R (p.Gly194Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G194R (p.Gly194Arg) variant details
- p.Gly194Arg
- rs376008630
- ClinGen CA164945384
- ClinVar RCV001731141
- ClinVar RCV003474017
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cystic fibrosis; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)