R55K (p.Arg55Lys) variant of CFTR (P13569)
R55K (p.Arg55Lys) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R55K (p.Arg55Lys) variant details
- p.Arg55Lys
- rs2484968449
- ClinGen CA368987566
- ClinVar RCV003062132
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.41
- MetaSVM -0.44
- CADD 28.90
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- 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)