S4I (p.Ser4Ile) variant of GATA4 (Transcription factor GATA-4)
S4I (p.Ser4Ile) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- gnomAD 8-11708323-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.89
- CADD 28.50
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available