A217T (p.Ala217Thr) variant of SCN5A (Nav1.5)
A217T (p.Ala217Thr) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A217T (p.Ala217Thr) variant details
- p.Ala217Thr
- cosmic curated COSV61123
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.96
- MetaSVM 1.10
- CADD 23.40
- Population evidence available
- Structural context available