C21Y (p.Cys21Tyr) variant of SCN1B (Q07699)
C21Y (p.Cys21Tyr) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- gnomAD 19-35032549-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.97
- CADD 29.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available