I112V (p.Ile112Val) variant of RHEB (GTP-binding protein Rheb)
I112V (p.Ile112Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- gnomAD 7-151471440-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.20
- MetaLR 0.16
- MetaSVM -0.91
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available