N79M (p.Asn79Met) variant of RHEB (GTP-binding protein Rheb)
N79M (p.Asn79Met) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N79M (p.Asn79Met) variant details
- p.Asn79Met
- gnomAD 7-151477371-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available