R45L (p.Arg45Leu) variant of SCN1B (Q07699)
R45L (p.Arg45Leu) 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.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- gnomAD 19-35032621-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.70
- MetaSVM 0.34
- CADD 27.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available