A16S (p.Ala16Ser) variant of GATA6 (Transcription factor GATA-6)
A16S (p.Ala16Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 18-22171190-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.19
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available