D82G (p.Asp82Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D82G (p.Asp82Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D82G (p.Asp82Gly) variant details
- p.Asp82Gly
- TOPMed rs1465012607
- gnomAD rs1465012607
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.93
- MetaLR 0.15
- MetaSVM -0.93
- CADD 25.50
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available