A2S (p.Ala2Ser) variant of GATA6 (Transcription factor GATA-6)
A2S (p.Ala2Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 18-22171148-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.48
- CADD 25.50
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available