E92D (p.Glu92Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E92D (p.Glu92Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes structural context.
E92D (p.Glu92Asp) variant details
- p.Glu92Asp
- TOPMed rs1553764122
- gnomAD rs1553764122
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.08
- MetaSVM -1.14
- SIFT 0.13
- Structural context available