H100R (p.His100Arg) variant of RHEB (GTP-binding protein Rheb)
H100R (p.His100Arg) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H100R (p.His100Arg) variant details
- p.His100Arg
- ExAC rs772187036
- gnomAD rs772187036
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.58
- MetaLR 0.24
- MetaSVM -0.78
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available