E138G (p.Glu138Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E138G (p.Glu138Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E138G (p.Glu138Gly) variant details
- p.Glu138Gly
- Ensembl rs1571508315
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.87
- CADD 21.80
- Population evidence available
- Structural context available