T28S (p.Thr28Ser) variant of SCN1B (Q07699)
T28S (p.Thr28Ser) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T28S (p.Thr28Ser) variant details
- p.Thr28Ser
- gnomAD 19-35032569-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.75
- ESM-1b 0.09
- AlphaMissense 0.65
- MetaLR 0.85
- MetaSVM 0.69
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available