A6D (p.Ala6Asp) variant of GATA4 (Transcription factor GATA-4)
A6D (p.Ala6Asp) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in VSD1. 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.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- cosmic curated COSV10884
- 1000Genomes rs199922907
- ExAC rs199922907
- TOPMed rs199922907
- Uncertain significance
- in VSD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.86
- MetaLR 0.25
- MetaSVM -0.67
- CADD 25.50
- PolyPhen-2 0.79
- SIFT 0.01
- EBI: Variant of uncertain significance (in VSD1)
- UniProt: Uncertain significance (in VSD1)
- Population evidence available
- Structural context available