K120R (p.Lys120Arg) variant of RHEB (GTP-binding protein Rheb)
K120R (p.Lys120Arg) 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.
K120R (p.Lys120Arg) variant details
- p.Lys120Arg
- gnomAD 7-151471415-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.09
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available