I76V (p.Ile76Val) variant of RHEB (GTP-binding protein Rheb)
I76V (p.Ile76Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- gnomAD 7-151477382-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.58
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available