V117A (p.Val117Ala) variant of RHEB (GTP-binding protein Rheb)
V117A (p.Val117Ala) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V117A (p.Val117Ala) variant details
- p.Val117Ala
- gnomAD 7-151471424-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.93
- MetaLR 0.75
- MetaSVM 0.66
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available