I90V (p.Ile90Val) variant of RHEB (GTP-binding protein Rheb)
I90V (p.Ile90Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I90V (p.Ile90Val) variant details
- p.Ile90Val
- TOPMed rs1401324113
- gnomAD rs1401324113
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- MetaLR 0.22
- MetaSVM -0.81
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available