Q99* (p.Gln99Ter) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Q99* (p.Gln99Ter) in SV2A (Synaptic vesicle glycoprotein 2A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q99* (p.Gln99Ter) variant details
- p.Gln99Ter
- TOPMed rs1397678349
- gnomAD rs1397678349
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available