G12R (p.Gly12Arg) variant of GATA4 (Transcription factor GATA-4)
G12R (p.Gly12Arg) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy; not provided; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs750597721
- ClinGen CA4630591
- ClinVar RCV000798672
- ClinVar RCV001251996
- Uncertain significance
- Primary dilated cardiomyopathy; not provided; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.87
- MetaLR 0.95
- MetaSVM 1.07
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; not provided; Atrioventricular s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)