G7S (p.Gly7Ser) variant of GATA6 (Transcription factor GATA-6)
G7S (p.Gly7Ser) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs1453414298
- ClinGen CA401798297
- ClinVar RCV003642833
- 1000Genomes rs1453414298
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available