A17D (p.Ala17Asp) variant of SCN1B (Q07699)
A17D (p.Ala17Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- cosmic curated COSV52893
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- ESM-1b 1.00
- AlphaMissense 0.46
- Structural context available