I47M (p.Ile47Met) variant of RHEB (GTP-binding protein Rheb)
I47M (p.Ile47Met) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- TOPMed rs1802438993
- gnomAD rs1802438993
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.43
- MetaLR 0.34
- MetaSVM -0.42
- CADD 23.50
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available