Q67* (p.Gln67Ter) variant of SHANK2 (Q9UPX8)
Q67* (p.Gln67Ter) in SHANK2 (Q9UPX8) 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 0.73 / 1. The record also includes population frequency data.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 44.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)