G12E (p.Gly12Glu) variant of GATA4 (Transcription factor GATA-4)
G12E (p.Gly12Glu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- gnomAD 8-11708347-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.88
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available