L89* (p.Leu89Ter) variant of SMC3 (Q9UQE7)
L89* (p.Leu89Ter) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L89* (p.Leu89Ter) variant details
- p.Leu89Ter
- gnomAD 10-110577488-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available