S36R (p.Ser36Arg) variant of MEF2C (Q06413)
S36R (p.Ser36Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S36R (p.Ser36Arg) variant details
- p.Ser36Arg
- rs2153074738
- ClinGen CA360425110
- ClinVar RCV003149131
- UniProt VAR 078228
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.64
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: MEF2C-Related Disorder. (PMID 39666846)