G178R (p.Gly178Arg) variant of CFTR (P13569)
G178R (p.Gly178Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary pancreatitis. 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.
G178R (p.Gly178Arg) variant details
- p.Gly178Arg
- rs80282562
- ClinGen CA368976470
- ClinVar RCV002249341
- ExAC rs80282562
- Pathogenic
- Hereditary pancreatitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- ClinVar: Pathogenic (Hereditary pancreatitis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. (PMID 11242048)
- Cited in: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis… (PMID 1379210)