I114V (p.Ile114Val) variant of RHEB (GTP-binding protein Rheb)
I114V (p.Ile114Val) 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 and structural context.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- TOPMed rs1802159781
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- MetaLR 0.31
- MetaSVM -0.64
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.51
- Population evidence available
- Structural context available