S15P (p.Ser15Pro) variant of SCN1B (Q07699)
S15P (p.Ser15Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 19-35032530-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.53
- ESM-1b 0.36
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.70
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available