I46N (p.Ile46Asn) variant of MEF2C (Q06413)
I46N (p.Ile46Asn) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.92 / 1. The record also includes published literature and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- rs1799660837
- ClinGen CA360425042
- cosmic curated COSV10042
- ClinVar RCV001203899
- Conflicting interpretations
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)