I112T (p.Ile112Thr) variant of RHEB (GTP-binding protein Rheb)
I112T (p.Ile112Thr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I112T (p.Ile112Thr) variant details
- p.Ile112Thr
- gnomAD 7-151471439-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.69
- MetaLR 0.39
- MetaSVM -0.35
- CADD 24.20
- PolyPhen-2 0.28
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available