G24C (p.Gly24Cys) variant of GATA4 (Transcription factor GATA-4)
G24C (p.Gly24Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- rs777394438
- ClinGen CA370308732
- ClinVar RCV004513416
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.72
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available