G63R (p.Gly63Arg) variant of RHEB (GTP-binding protein Rheb)
G63R (p.Gly63Arg) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- Ensembl rs1802437887
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.09
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available