G22S (p.Gly22Ser) variant of GATA4 (Transcription factor GATA-4)
G22S (p.Gly22Ser) 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 0.60 / 1. The record also includes population frequency data and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs2486778757
- ClinGen CA370308701
- ClinVar RCV004395121
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.43
- MetaLR 0.86
- MetaSVM 0.62
- CADD 23.20
- PolyPhen-2 0.77
- SIFT 0.64
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available