L38Q (p.Leu38Gln) variant of MEF2C (Q06413)
L38Q (p.Leu38Gln) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- rs397514655
- ClinGen CA130787
- ClinVar RCV000033229
- Ensembl rs397514655
- Pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation… (PMID 20513142)
- Cited in: MEF2C-Related Disorder. (PMID 39666846)