H11N (p.His11Asn) variant of GATA4 (Transcription factor GATA-4)
H11N (p.His11Asn) 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 0.74 / 1. The record also includes population frequency data and structural context.
H11N (p.His11Asn) variant details
- p.His11Asn
- rs1350855665
- ClinGen CA370308532
- ClinVar RCV001203089
- gnomAD rs1350855665
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.69
- MetaLR 0.91
- MetaSVM 0.94
- CADD 23.50
- PolyPhen-2 0.58
- SIFT 0.12
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available