A32S (p.Ala32Ser) variant of GATA4 (Transcription factor GATA-4)
A32S (p.Ala32Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 8-11708406-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.52
- CADD 18.60
- PolyPhen-2 0.11
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available