H100H (p.His100His) variant of RHEB (GTP-binding protein Rheb)
H100H (p.His100His) in RHEB (GTP-binding protein Rheb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H100H (p.His100His) variant details
- p.His100His
- rs200487961
- gnomAD 7-151471581-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available