D12V (p.Asp12Val) variant of SCN2A (Q99250)
D12V (p.Asp12Val) in SCN2A (Q99250) 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.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- gnomAD 2-165295858-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.93
- MetaSVM 1.07
- CADD 28.50
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available
- Literature evidence available