I39T (p.Ile39Thr) variant of GATA6 (Transcription factor GATA-6)
I39T (p.Ile39Thr) 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 0.35 / 1. The record also includes population frequency data and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs572030089
- ClinGen CA8908814
- ClinVar RCV003643194
- 1000Genomes rs572030089
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.35
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.27
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available