Q37* (p.Gln37Ter) variant of STAG2 (Cohesin subunit SA-2)
Q37* (p.Gln37Ter) in STAG2 (Cohesin subunit SA-2) 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, published literature, and structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- gnomAD X-124025904-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available