A2T (p.Ala2Thr) variant of SCN2A (Q99250)
A2T (p.Ala2Thr) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1274697462
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.30
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available