Y81H (p.Tyr81His) variant of RHEB (GTP-binding protein Rheb)
Y81H (p.Tyr81His) 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.
Y81H (p.Tyr81His) variant details
- p.Tyr81His
- gnomAD 7-151477367-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- MetaLR 0.70
- MetaSVM 0.57
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available