K97E (p.Lys97Glu) variant of RHEB (GTP-binding protein Rheb)
K97E (p.Lys97Glu) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- gnomAD 7-151471592-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.67
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available