G27R (p.Gly27Arg) variant of CFTR (P13569)
G27R (p.Gly27Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs397508796
- ExAC rs397508796
- TOPMed rs397508796
- gnomAD rs397508796
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.10
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)