R15P (p.Arg15Pro) variant of RHEB (GTP-binding protein Rheb)
R15P (p.Arg15Pro) 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.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- ExAC rs769657232
- TOPMed rs769657232
- gnomAD rs769657232
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.60
- MetaLR 0.36
- MetaSVM -0.43
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available