G137E (p.Gly137Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G137E (p.Gly137Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G137E (p.Gly137Glu) variant details
- p.Gly137Glu
- cosmic curated COSV64964
- TOPMed rs1326993187
- gnomAD rs1326993187
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available