T28I (p.Thr28Ile) variant of SCN1B (Q07699)
T28I (p.Thr28Ile) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- gnomAD 19-35032570-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- ESM-1b 0.46
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.53
- CADD 25.90
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available