Y145* (p.Tyr145Ter) variant of SHANK2 (Q9UPX8)
Y145* (p.Tyr145Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
Y145* (p.Tyr145Ter) variant details
- p.Tyr145Ter
- cosmic curated COSV10648
- ExAC rs782662688
- TOPMed rs782662688
- gnomAD rs782662688
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Population evidence available