R29G (p.Arg29Gly) variant of CFTR (P13569)
R29G (p.Arg29Gly) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs2484968159
- ClinGen CA368987006
- ClinVar RCV002447975
- NCI-TCGA TCGA novel
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.74
- ESM-1b 0.62
- AlphaMissense 0.18
- MetaLR 0.84
- MetaSVM 0.91
- CADD 24.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- 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)