F70L (p.Phe70Leu) variant of RHEB (GTP-binding protein Rheb)
F70L (p.Phe70Leu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- gnomAD 7-151477400-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- MetaLR 0.10
- MetaSVM -0.98
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available