E40Q (p.Glu40Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E40Q (p.Glu40Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- TOPMed rs1160683240
- gnomAD rs1160683240
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.10
- MetaSVM -1.04
- CADD 24.60
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available