T23M (p.Thr23Met) variant of RHEB (GTP-binding protein Rheb)
T23M (p.Thr23Met) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T23M (p.Thr23Met) variant details
- p.Thr23Met
- rs867628277
- NCI-TCGA Cosmic COSV5126
- Ensembl rs867628277
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.72
- MetaLR 0.35
- MetaSVM -0.24
- CADD 24.70
- PolyPhen-2 0.29
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available