P116L (p.Pro116Leu) variant of SCN5A (Nav1.5)
P116L (p.Pro116Leu) 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.
P116L (p.Pro116Leu) variant details
- p.Pro116Leu
- cosmic curated COSV10465
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- ESM-1b 1.00
- AlphaMissense 0.78
- Structural context available