I78V (p.Ile78Val) variant of RHEB (GTP-binding protein Rheb)
I78V (p.Ile78Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- TOPMed rs1802289477
- gnomAD rs1802289477
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.33
- MetaLR 0.20
- MetaSVM -0.80
- CADD 21.60
- PolyPhen-2 0.08
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available