Q111K (p.Gln111Lys) variant of RHEB (GTP-binding protein Rheb)
Q111K (p.Gln111Lys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q111K (p.Gln111Lys) variant details
- p.Gln111Lys
- gnomAD 7-151471550-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.79
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available