M115C (p.Met115Cys) variant of RHEB (GTP-binding protein Rheb)
M115C (p.Met115Cys) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M115C (p.Met115Cys) variant details
- p.Met115Cys
- gnomAD 7-151471431-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available