R3S (p.Arg3Ser) variant of MEF2C (Q06413)
R3S (p.Arg3Ser) 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 0.89 / 1. The record also includes published literature and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs876661308
- ClinGen CA10575830
- ClinVar RCV000223956
- Ensembl rs876661308
- Pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)