I69L (p.Ile69Leu) variant of RHEB (GTP-binding protein Rheb)
I69L (p.Ile69Leu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I69L (p.Ile69Leu) variant details
- p.Ile69Leu
- TOPMed rs1294581220
- gnomAD rs1294581220
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.36
- MetaLR 0.17
- MetaSVM -0.87
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available