S4N (p.Ser4Asn) variant of GATA4 (Transcription factor GATA-4)
S4N (p.Ser4Asn) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs1421266458
- ClinGen CA370308434
- ClinVar RCV003528559
- ClinVar RCV004992626
- Uncertain significance
- Atrioventricular septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.70
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.70
- PolyPhen-2 0.59
- SIFT 0.07
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available