G149R (p.Gly149Arg) variant of CFTR (P13569)
G149R (p.Gly149Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G149R (p.Gly149Arg) variant details
- p.Gly149Arg
- rs397508718
- ClinGen CA327493
- ClinVar RCV000577096
- ClinVar RCV003883127
- Pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.93
- CADD 32.00
- ClinVar: Pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Heredi)
- EBI: Pathogenic (in CBAVD)
- UniProt: Pathogenic (in CBAVD)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67… (PMID 7529962)
- Cited in: Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. (PMID 10066035)