E3G (p.Glu3Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E3G (p.Glu3Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD rs2092494455
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -0.72
- CADD 24.10
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available