R15G (p.Arg15Gly) variant of MEF2C (Q06413)
R15G (p.Arg15Gly) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.83 / 1. The record also includes published literature and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs796052728
- ClinGen CA360425271
- ClinVar RCV003132642
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (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)