L5F (p.Leu5Phe) variant of GATA4 (Transcription factor GATA-4)
L5F (p.Leu5Phe) 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 0.75 / 1. The record also includes population frequency data and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- ExAC rs55635838
- TOPMed rs55635838
- gnomAD rs55635838
- Uncertain significance
- Atrioventricular septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.69
- MetaLR 0.94
- MetaSVM 1.06
- CADD 36.00
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available