Y74* (p.Tyr74Ter) variant of RHEB (GTP-binding protein Rheb)
Y74* (p.Tyr74Ter) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y74* (p.Tyr74Ter) variant details
- p.Tyr74Ter
- gnomAD 7-151477386-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available