S42F (p.Ser42Phe) variant of SCN1B (Q07699)
S42F (p.Ser42Phe) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- gnomAD 19-35032612-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.12
- MetaSVM -1.03
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available