R3K (p.Arg3Lys) variant of SCN1B (Q07699)
R3K (p.Arg3Lys) 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.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- gnomAD 19-35030828-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.73
- MetaSVM 0.04
- CADD 12.00
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available