Q111H (p.Gln111His) variant of RHEB (GTP-binding protein Rheb)
Q111H (p.Gln111His) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q111H (p.Gln111His) variant details
- p.Gln111His
- ESP rs374943192
- ExAC rs374943192
- TOPMed rs374943192
- gnomAD rs374943192
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.24
- MetaLR 0.20
- MetaSVM -0.99
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available