I90L (p.Ile90Leu) variant of RHEB (GTP-binding protein Rheb)
I90L (p.Ile90Leu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I90L (p.Ile90Leu) variant details
- p.Ile90Leu
- gnomAD 7-151477340-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.27
- MetaLR 0.14
- MetaSVM -0.93
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available