L13Q (p.Leu13Gln) variant of SCN1B (Q07699)
L13Q (p.Leu13Gln) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 19-35030858-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.92
- MetaSVM 0.73
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- Structural context available
- Literature evidence available