D53E (p.Asp53Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D53E (p.Asp53Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- rs1224279304
- ClinGen CA1071293
- ClinVar RCV004115804
- TOPMed rs1224279304
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.089
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -1.02
- CADD 0.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available