S15Y (p.Ser15Tyr) variant of SCN1B (Q07699)
S15Y (p.Ser15Tyr) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- TOPMed rs1392159192
- gnomAD rs1392159192
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- ESM-1b 0.23
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 0.93
- CADD 24.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available