I24V (p.Ile24Val) variant of RHEB (GTP-binding protein Rheb)
I24V (p.Ile24Val) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- NCI-TCGA Cosmic COSV5126
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.47
- MetaLR 0.32
- MetaSVM -0.59
- CADD 22.80
- PolyPhen-2 0.65
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available