S33Y (p.Ser33Tyr) variant of GATA6 (Transcription factor GATA-6)
S33Y (p.Ser33Tyr) 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 0.57 / 1. The record also includes population frequency data and structural context.
S33Y (p.Ser33Tyr) variant details
- p.Ser33Tyr
- rs2510625108
- ClinGen CA401798640
- ClinVar RCV002736757
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.50
- CADD 25.50
- PolyPhen-2 0.80
- SIFT 0.00
- 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 9e-07)
- Structural context available