A25S (p.Ala25Ser) variant of GATA4 (Transcription factor GATA-4)
A25S (p.Ala25Ser) 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.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 8-11708385-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.79
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available