P113H (p.Pro113His) variant of RHEB (GTP-binding protein Rheb)
P113H (p.Pro113His) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P113H (p.Pro113His) variant details
- p.Pro113His
- gnomAD 7-151471436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.90
- MetaLR 0.81
- MetaSVM 0.84
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available