G628R (p.Gly628Arg) variant of CFTR (P13569)
G628R (p.Gly628Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G628R (p.Gly628Arg) variant details
- p.Gly628Arg
- rs397508316
- ClinGen CA326706
- ClinVar RCV000577750
- ExAC rs397508316
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis… (PMID 1379210)
- Cited in: Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the… (PMID 7508414)