A33E (p.Ala33Glu) variant of GATA4 (Transcription factor GATA-4)
A33E (p.Ala33Glu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- gnomAD 8-11708410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.77
- CADD 23.10
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available