S4R (p.Ser4Arg) variant of GATA4 (Transcription factor GATA-4)
S4R (p.Ser4Arg) 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 Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- rs1247823780
- TOPMed rs1247823780
- gnomAD rs1247823780
- ClinGen CA370308437
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.75
- MetaLR 0.95
- MetaSVM 1.05
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.04
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available