S75P (p.Ser75Pro) variant of RHEB (GTP-binding protein Rheb)
S75P (p.Ser75Pro) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S75P (p.Ser75Pro) variant details
- p.Ser75Pro
- gnomAD 7-151477385-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.78
- MetaLR 0.58
- MetaSVM 0.16
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available