R55I (p.Arg55Ile) variant of CFTR (P13569)
R55I (p.Arg55Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
R55I (p.Arg55Ile) variant details
- p.Arg55Ile
- rs2484968449
- ClinGen CA368987571
- ClinVar RCV002308618
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- ESM-1b 0.00
- AlphaMissense 0.47
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available