R21I (p.Arg21Ile) variant of CFTR (P13569)
R21I (p.Arg21Ile) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R21I (p.Arg21Ile) variant details
- p.Arg21Ile
- rs777520137
- ClinGen CA4450629
- ClinVar RCV001044682
- ExAC rs777520137
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.71
- CADD 22.50
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)