I112K (p.Ile112Lys) variant of RHEB (GTP-binding protein Rheb)
I112K (p.Ile112Lys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I112K (p.Ile112Lys) variant details
- p.Ile112Lys
- gnomAD 7-151471439-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.86
- MetaLR 0.49
- MetaSVM -0.09
- CADD 24.50
- PolyPhen-2 0.43
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available