D12N (p.Asp12Asn) variant of SCN8A (Nav1.6)
D12N (p.Asp12Asn) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- TOPMed rs1940950636
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.79
- MetaSVM 0.39
- SIFT 0.02
- Structural context available