A20E (p.Ala20Glu) variant of GATA4 (Transcription factor GATA-4)
A20E (p.Ala20Glu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- ExAC rs753775704
- TOPMed rs753775704
- gnomAD rs753775704
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.40
- MetaLR 0.78
- MetaSVM 0.58
- CADD 17.00
- PolyPhen-2 0.39
- SIFT 0.12
- Population evidence available
- Structural context available