A29S (p.Ala29Ser) variant of GATA6 (Transcription factor GATA-6)
A29S (p.Ala29Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 18-22171229-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available