I112M (p.Ile112Met) variant of RHEB (GTP-binding protein Rheb)
I112M (p.Ile112Met) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I112M (p.Ile112Met) variant details
- p.Ile112Met
- gnomAD 7-151471438-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.42
- MetaLR 0.31
- MetaSVM -0.58
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available