T18A (p.Thr18Ala) variant of SCN2A (Q99250)
T18A (p.Thr18Ala) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD 2-165295875-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.95
- MetaSVM 1.21
- CADD 24.50
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available