L83I (p.Leu83Ile) variant of RHEB (GTP-binding protein Rheb)
L83I (p.Leu83Ile) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L83I (p.Leu83Ile) variant details
- p.Leu83Ile
- gnomAD 7-151477361-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.61
- MetaLR 0.54
- MetaSVM 0.18
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available