R73* (p.Arg73Ter) variant of SHANK2 (Q9UPX8)
R73* (p.Arg73Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- cosmic curated COSV58339
- ExAC rs782146308
- gnomAD rs782146308
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.3e-05)