P32T (p.Pro32Thr) variant of GATA6 (Transcription factor GATA-6)
P32T (p.Pro32Thr) 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.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- rs1166309522
- ClinGen CA401798617
- ClinVar RCV001316447
- TOPMed rs1166309522
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.32
- CADD 20.50
- PolyPhen-2 0.14
- 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 4.4e-05)
- Structural context available