E66G (p.Glu66Gly) variant of RHEB (GTP-binding protein Rheb)
E66G (p.Glu66Gly) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E66G (p.Glu66Gly) variant details
- p.Glu66Gly
- gnomAD 7-151477411-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.91
- MetaLR 0.67
- MetaSVM 0.51
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available