P101T (p.Pro101Thr) variant of MEF2C (Q06413)
P101T (p.Pro101Thr) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autism spectrum disorder. The record also includes published literature and structural context.
P101T (p.Pro101Thr) variant details
- p.Pro101Thr
- rs2548168565
- ClinGen CA360424643
- ClinVar RCV003127257
- Likely pathogenic
- Autism spectrum disorder
- Missense
- ClinVar: Likely pathogenic (Autism spectrum disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)