D45E (p.Asp45Glu) variant of SCN2A (Q99250)
D45E (p.Asp45Glu) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- gnomAD 2-165295958-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.88
- MetaSVM 0.76
- CADD 17.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available