V117I (p.Val117Ile) variant of RHEB (GTP-binding protein Rheb)
V117I (p.Val117Ile) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V117I (p.Val117Ile) variant details
- p.Val117Ile
- gnomAD 7-151471425-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.73
- MetaLR 0.70
- MetaSVM 0.51
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available