D65G (p.Asp65Gly) variant of RHEB (GTP-binding protein Rheb)
D65G (p.Asp65Gly) 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.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- gnomAD 7-151477414-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.91
- MetaLR 0.63
- MetaSVM 0.38
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available