A22T (p.Ala22Thr) variant of SCN5A (Nav1.5)
A22T (p.Ala22Thr) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- cosmic curated COSV10964
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.78
- MetaSVM 0.78
- CADD 23.60
- Population evidence available
- Structural context available