D122G (p.Asp122Gly) variant of RHEB (GTP-binding protein Rheb)
D122G (p.Asp122Gly) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D122G (p.Asp122Gly) variant details
- p.Asp122Gly
- gnomAD 7-151471409-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.99
- MetaLR 0.96
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available