L64Q (p.Leu64Gln) variant of SCN5A (Nav1.5)
L64Q (p.Leu64Gln) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L64Q (p.Leu64Gln) variant details
- p.Leu64Gln
- cosmic curated COSV60067
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- ESM-1b 1.00
- AlphaMissense 0.89
- Structural context available