A9S (p.Ala9Ser) variant of GATA4 (Transcription factor GATA-4)
A9S (p.Ala9Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 8-11708337-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.45
- CADD 19.90
- PolyPhen-2 0.20
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available