F198L (p.Phe198Leu) variant of SCN5A (Nav1.5)
F198L (p.Phe198Leu) in SCN5A (Nav1.5) 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 0.97 / 1. The record also includes structural context.
F198L (p.Phe198Leu) variant details
- p.Phe198Leu
- rs2471838206
- ClinGen CA352153510
- ClinVar RCV002302601
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available