A19S (p.Ala19Ser) variant of GATA6 (Transcription factor GATA-6)
A19S (p.Ala19Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 18-22171199-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.29
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available