C43F (p.Cys43Phe) variant of SCN1B (Q07699)
C43F (p.Cys43Phe) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
C43F (p.Cys43Phe) variant details
- p.Cys43Phe
- cosmic curated COSV52893
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- Structural context available