L227R (p.Leu227Arg) variant of CFTR (P13569)
L227R (p.Leu227Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L227R (p.Leu227Arg) variant details
- p.Leu227Arg
- rs397508782
- ClinGen CA327623
- ClinVar RCV000047234
- ClinVar RCV001826696
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.79
- CADD 28.50
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- 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)