R15Q (p.Arg15Gln) variant of RHEB (GTP-binding protein Rheb)
R15Q (p.Arg15Gln) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- ExAC rs769657232
- TOPMed rs769657232
- gnomAD rs769657232
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.60
- MetaLR 0.38
- MetaSVM -0.36
- CADD 28.70
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available