G22D (p.Gly22Asp) variant of GATA4 (Transcription factor GATA-4)
G22D (p.Gly22Asp) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- cosmic curated COSV58732
- ExAC rs758117613
- gnomAD rs758117613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.57
- MetaLR 0.88
- MetaSVM 0.73
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available