A20G (p.Ala20Gly) variant of GATA4 (Transcription factor GATA-4)
A20G (p.Ala20Gly) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 8-11708371-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.33
- CADD 18.10
- PolyPhen-2 0.30
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available