A29E (p.Ala29Glu) variant of GATA6 (Transcription factor GATA-6)
A29E (p.Ala29Glu) 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 0.31 / 1. The record also includes population frequency data and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- rs1185015412
- ClinGen CA401798589
- ClinVar RCV001950049
- TOPMed rs1185015412
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 0.19
- 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