K120* (p.Lys120Ter) variant of RHEB (GTP-binding protein Rheb)
K120* (p.Lys120Ter) in RHEB (GTP-binding protein Rheb) 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.
K120* (p.Lys120Ter) variant details
- p.Lys120Ter
- gnomAD 7-151471416-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available