I112L (p.Ile112Leu) variant of RHEB (GTP-binding protein Rheb)
I112L (p.Ile112Leu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I112L (p.Ile112Leu) variant details
- p.Ile112Leu
- gnomAD 7-151471440-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.66
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available