K121E (p.Lys121Glu) variant of RHEB (GTP-binding protein Rheb)
K121E (p.Lys121Glu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K121E (p.Lys121Glu) variant details
- p.Lys121Glu
- TOPMed rs962426677
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.46
- MetaLR 0.38
- MetaSVM -0.41
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.20
- Population evidence available
- Structural context available