R15H (p.Arg15His) variant of MEF2C (Q06413)
R15H (p.Arg15His) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Neurodevelopmental disorder with hypotoni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs1202957297
- ClinGen CA360425268
- cosmic curated COSV60928
- ClinVar RCV000760219
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Neurodevelopmental disorder with hypotoni
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.79
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.67
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Neurodevelopmental disord)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)