I11M (p.Ile11Met) variant of RHEB (GTP-binding protein Rheb)
I11M (p.Ile11Met) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I11M (p.Ile11Met) variant details
- p.Ile11Met
- 1000Genomes rs532923868
- ExAC rs532923868
- TOPMed rs532923868
- gnomAD rs532923868
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- MetaLR 0.39
- MetaSVM -0.41
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available