Y57C (p.Tyr57Cys) variant of MEF2C (Q06413)
Y57C (p.Tyr57Cys) 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 0.91 / 1. The record also includes published literature and structural context.
Y57C (p.Tyr57Cys) variant details
- p.Tyr57Cys
- rs2153074319
- ClinGen CA360424961
- ClinVar RCV001376765
- Ensembl rs2153074319
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- 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)