L83P (p.Leu83Pro) variant of RHEB (GTP-binding protein Rheb)
L83P (p.Leu83Pro) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L83P (p.Leu83Pro) variant details
- p.Leu83Pro
- gnomAD 7-151477360-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.94
- MetaLR 0.82
- MetaSVM 0.91
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available