K120E (p.Lys120Glu) variant of RHEB (GTP-binding protein Rheb)
K120E (p.Lys120Glu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
K120E (p.Lys120Glu) variant details
- p.Lys120Glu
- gnomAD 7-151471416-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available