A217D (p.Ala217Asp) variant of SCN5A (Nav1.5)
A217D (p.Ala217Asp) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
A217D (p.Ala217Asp) variant details
- p.Ala217Asp
- cosmic curated COSV61136
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- CADD 28.10
- Population evidence available
- Structural context available