H100Y (p.His100Tyr) variant of RHEB (GTP-binding protein Rheb)
H100Y (p.His100Tyr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H100Y (p.His100Tyr) variant details
- p.His100Tyr
- ESP rs375061279
- ExAC rs375061279
- TOPMed rs375061279
- gnomAD rs375061279
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.39
- MetaLR 0.19
- MetaSVM -0.85
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 0.00053)
- Structural context available