K121R (p.Lys121Arg) variant of RHEB (GTP-binding protein Rheb)
K121R (p.Lys121Arg) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K121R (p.Lys121Arg) variant details
- p.Lys121Arg
- gnomAD 7-151471412-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- MetaLR 0.32
- MetaSVM -0.58
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available