E138Q (p.Glu138Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E138Q (p.Glu138Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E138Q (p.Glu138Gln) variant details
- p.Glu138Gln
- ExAC rs782692651
- gnomAD rs782692651
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.63
- CADD 22.40
- Population evidence available
- Structural context available