G124E (p.Gly124Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G124E (p.Gly124Glu) 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.
G124E (p.Gly124Glu) variant details
- p.Gly124Glu
- gnomAD rs1553764085
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -0.99
- CADD 14.20
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available