L35R (p.Leu35Arg) variant of MEF2C (Q06413)
L35R (p.Leu35Arg) 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 0.95 / 1. The record also includes published literature and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- rs2153074771
- ClinGen CA360425112
- ClinVar RCV001805750
- Ensembl rs2153074771
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)