R67* (p.Arg67Ter) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R67* (p.Arg67Ter) in SV2A (Synaptic vesicle glycoprotein 2A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- rs1050227446
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- gnomAD rs1050227446
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available