V7I (p.Val7Ile) variant of SCN2A (Q99250)
V7I (p.Val7Ile) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- gnomAD 2-165295842-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.80
- MetaSVM 0.65
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available