P32L (p.Pro32Leu) variant of GATA6 (Transcription factor GATA-6)
P32L (p.Pro32Leu) 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.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs1473003349
- ClinGen CA401798626
- ClinVar RCV003011407
- TOPMed rs1473003349
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.31
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available