A30S (p.Ala30Ser) variant of GATA4 (Transcription factor GATA-4)
A30S (p.Ala30Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 8-11708400-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.51
- CADD 15.00
- PolyPhen-2 0.43
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available