F70S (p.Phe70Ser) variant of RHEB (GTP-binding protein Rheb)
F70S (p.Phe70Ser) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F70S (p.Phe70Ser) variant details
- p.Phe70Ser
- gnomAD 7-151477399-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.87
- MetaLR 0.56
- MetaSVM 0.20
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available