R15P (p.Arg15Pro) variant of MEF2C (Q06413)
R15P (p.Arg15Pro) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- rs1202957297
- ClinGen CA360425269
- ClinVar RCV002250111
- ClinVar RCV005255709
- Pathogenic
- not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (not provided; Neurodevelopmental disorder with hypotonia, stereo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)