F181L (p.Phe181Leu) variant of SCN5A (Nav1.5)
F181L (p.Phe181Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
F181L (p.Phe181Leu) variant details
- p.Phe181Leu
- rs2471838871
- ClinGen CA352153823
- ClinVar RCV003668610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available