Y32C (p.Tyr32Cys) variant of SCN1B (Q07699)
Y32C (p.Tyr32Cys) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- gnomAD rs995346461
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.78
- MetaSVM 0.68
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available