Q72R (p.Gln72Arg) variant of RHEB (GTP-binding protein Rheb)
Q72R (p.Gln72Arg) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- gnomAD 7-151477393-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.48
- MetaLR 0.20
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available