R3T (p.Arg3Thr) variant of SCN1B (Q07699)
R3T (p.Arg3Thr) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R3T (p.Arg3Thr) variant details
- p.Arg3Thr
- gnomAD 19-35030828-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.02
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available