A32T (p.Ala32Thr) variant of GATA4 (Transcription factor GATA-4)
A32T (p.Ala32Thr) 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 Cardiovascular phenotype; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs773545065
- ClinGen CA4630608
- ClinVar RCV000617409
- ClinVar RCV001219924
- Uncertain significance
- Cardiovascular phenotype; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.47
- MetaLR 0.92
- MetaSVM 0.88
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available