A32P (p.Ala32Pro) variant of GATA4 (Transcription factor GATA-4)
A32P (p.Ala32Pro) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs773545065
- ClinGen CA172074520
- ClinVar RCV002536540
- ClinVar RCV005251214
- Uncertain significance
- not provided; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- MetaLR 0.95
- MetaSVM 1.05
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available