I24T (p.Ile24Thr) variant of RHEB (GTP-binding protein Rheb)
I24T (p.Ile24Thr) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability. The record also includes published literature and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- rs2536111808
- ClinGen CA370052716
- ClinVar RCV003570739
- ClinVar RCV005410964
- Conflicting interpretations
- not provided; Intellectual disability
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)