R6* (p.Arg6Ter) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R6* (p.Arg6Ter) in SV2A (Synaptic vesicle glycoprotein 2A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R6* (p.Arg6Ter) variant details
- p.Arg6Ter
- TOPMed rs1553764189
- gnomAD rs1553764189
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 34.00
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available