A8S (p.Ala8Ser) variant of GATA4 (Transcription factor GATA-4)
A8S (p.Ala8Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs1386678141
- ClinGen CA370308492
- ClinVar RCV001056166
- TOPMed rs1386678141
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- MetaLR 0.20
- MetaSVM -0.69
- CADD 21.60
- PolyPhen-2 0.12
- SIFT 0.53
- 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 2.9e-05)
- Structural context available