S26A (p.Ser26Ala) variant of SCN1B (Q07699)
S26A (p.Ser26Ala) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S26A (p.Ser26Ala) variant details
- p.Ser26Ala
- gnomAD rs1193324035
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.69
- ESM-1b 0.57
- AlphaMissense 0.50
- MetaLR 0.92
- MetaSVM 0.92
- CADD 27.80
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available