Y14* (p.Tyr14Ter) variant of SMC3 (Q9UQE7)
Y14* (p.Tyr14Ter) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y14* (p.Tyr14Ter) variant details
- p.Tyr14Ter
- gnomAD 10-110568964-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available