E94G (p.Glu94Gly) variant of RHEB (GTP-binding protein Rheb)
E94G (p.Glu94Gly) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E94G (p.Glu94Gly) variant details
- p.Glu94Gly
- gnomAD 7-151471600-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.83
- MetaLR 0.62
- MetaSVM 0.33
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available