I65V (p.Ile65Val) variant of SCN2A (Nav1.2)
I65V (p.Ile65Val) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- gnomAD 2-165296016-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.67
- ESM-1b 0.48
- AlphaMissense 0.42
- MetaLR 0.94
- MetaSVM 1.09
- CADD 24.20
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Literature evidence available