G118R (p.Gly118Arg) variant of RHEB (GTP-binding protein Rheb)
G118R (p.Gly118Arg) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G118R (p.Gly118Arg) variant details
- p.Gly118Arg
- gnomAD 7-151471422-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 0.86
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available