E69G (p.Glu69Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E69G (p.Glu69Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- ExAC rs782701966
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.09
- CADD 19.20
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available