S172F (p.Ser172Phe) variant of SCN5A (Nav1.5)
S172F (p.Ser172Phe) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
S172F (p.Ser172Phe) variant details
- p.Ser172Phe
- cosmic curated COSV61118
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- ESM-1b 1.00
- AlphaMissense 0.79
- Structural context available