D17E (p.Asp17Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D17E (p.Asp17Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- ExAC rs782438295
- TOPMed rs782438295
- gnomAD rs782438295
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.09
- MetaSVM -1.04
- CADD 25.10
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available