R3M (p.Arg3Met) variant of CFTR (P13569)
R3M (p.Arg3Met) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CFTR-related disorder; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R3M (p.Arg3Met) variant details
- p.Arg3Met
- rs1052894635
- ClinGen CA164948889
- ClinVar RCV001158546
- ClinVar RCV002375044
- Uncertain significance
- CFTR-related disorder; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.53
- MetaSVM -0.04
- CADD 24.50
- ClinVar: Uncertain significance (CFTR-related disorder; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)