G24S (p.Gly24Ser) variant of GATA4 (Transcription factor GATA-4)
G24S (p.Gly24Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs777394438
- ClinGen CA4630599
- ClinVar RCV003529106
- ExAC rs777394438
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- MetaLR 0.85
- MetaSVM 0.76
- CADD 23.30
- PolyPhen-2 0.23
- SIFT 0.25
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available