D56E (p.Asp56Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D56E (p.Asp56Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D56E (p.Asp56Glu) variant details
- p.Asp56Glu
- 1000Genomes rs199556773
- TOPMed rs199556773
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.00
- CADD 0.00
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available