A33V (p.Ala33Val) variant of GATA4 (Transcription factor GATA-4)
A33V (p.Ala33Val) 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 Atrioventricular septal defect 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs989115054
- ClinGen CA172074525
- ClinVar RCV001986430
- ClinVar RCV004990545
- Uncertain significance
- Atrioventricular septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.56
- MetaLR 0.23
- MetaSVM -0.58
- CADD 21.50
- PolyPhen-2 0.31
- SIFT 0.02
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available