A17S (p.Ala17Ser) variant of GATA4 (Transcription factor GATA-4)
A17S (p.Ala17Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD 8-11708361-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.34
- CADD 18.50
- PolyPhen-2 0.89
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available