E52K (p.Glu52Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E52K (p.Glu52Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- TOPMed rs1444649351
- gnomAD rs1444649351
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.05
- MetaSVM -1.12
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available