S21Y (p.Ser21Tyr) variant of SCN2A (Q99250)
S21Y (p.Ser21Tyr) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- gnomAD 2-165295885-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available