G29S (p.Gly29Ser) variant of GATA4 (Transcription factor GATA-4)
G29S (p.Gly29Ser) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs1053092495
- ClinGen CA370308807
- cosmic curated COSV10524
- ClinVar RCV002447986
- Conflicting interpretations
- Cardiovascular phenotype; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.41
- MetaLR 0.59
- MetaSVM -0.27
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrioventricular septal defect 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available