I8L (p.Ile8Leu) variant of MEF2C (Q06413)
I8L (p.Ile8Leu) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes published literature and structural context.
I8L (p.Ile8Leu) variant details
- p.Ile8Leu
- rs2532813819
- ClinGen CA360425321
- ClinVar RCV003149149
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)