Q72H (p.Gln72His) variant of RHEB (GTP-binding protein Rheb)
Q72H (p.Gln72His) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q72H (p.Gln72His) variant details
- p.Gln72His
- TOPMed rs1397979808
- gnomAD rs1397979808
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.54
- MetaLR 0.43
- MetaSVM -0.12
- CADD 25.40
- PolyPhen-2 0.74
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available