H28R (p.His28Arg) variant of GATA4 (Transcription factor GATA-4)
H28R (p.His28Arg) 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 0.55 / 1. The record also includes population frequency data and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- rs534250566
- ClinGen CA172074466
- ClinVar RCV001373503
- 1000Genomes rs534250566
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.80
- MetaLR 0.23
- MetaSVM -0.86
- CADD 22.40
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available