A6G (p.Ala6Gly) variant of GATA4 (Transcription factor GATA-4)
A6G (p.Ala6Gly) 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.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 8-11708329-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.76
- CADD 24.90
- PolyPhen-2 0.51
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available