R284H (p.Arg284His) variant of GATA4 (Transcription factor GATA-4)
R284H (p.Arg284His) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 2; Atrioventricular septal defect 4; Testicular anomalies w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R284H (p.Arg284His) variant details
- p.Arg284His
- rs2130313276
- ClinGen CA370313035
- cosmic curated COSV10589
- ClinVar RCV001949586
- Pathogenic
- Atrial septal defect 2; Atrioventricular septal defect 4; Testicular anomalies w
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Atrioventricular septal defect 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available