S45* (p.Ser45Ter) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S45* (p.Ser45Ter) in SV2A (Synaptic vesicle glycoprotein 2A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- ExAC rs782071934
- gnomAD rs782071934
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available