N53D (p.Asn53Asp) variant of SCN2A (Nav1.2)
N53D (p.Asn53Asp) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
N53D (p.Asn53Asp) variant details
- p.Asn53Asp
- cosmic curated COSV99334
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- ESM-1b 1.00
- AlphaMissense 0.30
- Structural context available