V84M (p.Val84Met) variant of RHEB (GTP-binding protein Rheb)
V84M (p.Val84Met) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V84M (p.Val84Met) variant details
- p.Val84Met
- gnomAD 7-151477358-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.88
- MetaLR 0.82
- MetaSVM 0.86
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available