Q72* (p.Gln72Ter) variant of RHEB (GTP-binding protein Rheb)
Q72* (p.Gln72Ter) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- gnomAD 7-151477394-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 45.00
- Population evidence available
- Structural context available
- Literature evidence available