D122E (p.Asp122Glu) variant of RHEB (GTP-binding protein Rheb)
D122E (p.Asp122Glu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D122E (p.Asp122Glu) variant details
- p.Asp122Glu
- gnomAD 7-151471408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.92
- MetaLR 0.94
- MetaSVM 0.99
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available