Y45* (p.Tyr45Ter) variant of SETD5 (Q9C0A6)
Y45* (p.Tyr45Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y45* (p.Tyr45Ter) variant details
- p.Tyr45Ter
- gnomAD 3-9429957-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available