Y74C (p.Tyr74Cys) variant of RHEB (GTP-binding protein Rheb)
Y74C (p.Tyr74Cys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y74C (p.Tyr74Cys) variant details
- p.Tyr74Cys
- gnomAD 7-151477387-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.95
- MetaLR 0.63
- MetaSVM 0.36
- CADD 28.40
- PolyPhen-2 0.76
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available