M8T (p.Met8Thr) variant of CTNNB1 (Catenin beta-1)
M8T (p.Met8Thr) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Intellectual disability. The record also includes published literature and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- rs1559467552
- ClinGen CA352227972
- ClinVar RCV000681492
- Likely benign
- Intellectual disability
- Missense
- ClinVar: Likely benign (Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- 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)