S89P (p.Ser89Pro) variant of RHEB (GTP-binding protein Rheb)
S89P (p.Ser89Pro) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S89P (p.Ser89Pro) variant details
- p.Ser89Pro
- gnomAD 7-151477343-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.88
- MetaLR 0.72
- MetaSVM 0.62
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available