E3D (p.Glu3Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E3D (p.Glu3Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- TOPMed rs1446025549
- gnomAD rs1446025549
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.19
- MetaSVM -0.65
- SIFT 0.01
- Structural context available