G4D (p.Gly4Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G4D (p.Gly4Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- gnomAD rs1553764190
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.11
- MetaSVM -1.02
- CADD 18.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available