A20S (p.Ala20Ser) variant of GATA4 (Transcription factor GATA-4)
A20S (p.Ala20Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 8-11708370-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.30
- CADD 5.29
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available