G80D (p.Gly80Asp) variant of RHEB (GTP-binding protein Rheb)
G80D (p.Gly80Asp) 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.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- gnomAD 7-151477369-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- MetaLR 0.84
- MetaSVM 0.98
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available