R55G (p.Arg55Gly) variant of CFTR (P13569)
R55G (p.Arg55Gly) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R55G (p.Arg55Gly) variant details
- p.Arg55Gly
- rs1798381048
- ClinGen CA368987561
- ClinVar RCV002403521
- Ensembl rs1798381048
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.65
- ESM-1b 0.53
- AlphaMissense 0.48
- MetaLR 0.65
- MetaSVM 0.19
- CADD 25.40
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)