A33S (p.Ala33Ser) variant of GATA4 (Transcription factor GATA-4)
A33S (p.Ala33Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- gnomAD 8-11708409-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.50
- CADD 21.70
- PolyPhen-2 0.34
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available