R3W (p.Arg3Trp) variant of CFTR (P13569)
R3W (p.Arg3Trp) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs2116604544
- ClinVar RCV001775206
- ClinVar RCV004699474
- ClinVar RCV005237989
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.79
- ESM-1b 0.56
- AlphaMissense 0.54
- MetaLR 0.64
- MetaSVM 0.46
- CADD 32.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)