G118E (p.Gly118Glu) variant of RHEB (GTP-binding protein Rheb)
G118E (p.Gly118Glu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G118E (p.Gly118Glu) variant details
- p.Gly118Glu
- gnomAD 7-151471421-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- MetaLR 0.87
- MetaSVM 1.04
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available