T88K (p.Thr88Lys) variant of RHEB (GTP-binding protein Rheb)
T88K (p.Thr88Lys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T88K (p.Thr88Lys) variant details
- p.Thr88Lys
- gnomAD 7-151477345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- MetaLR 0.73
- MetaSVM 0.65
- CADD 32.00
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available