S40Y (p.Ser40Tyr) variant of GATA6 (Transcription factor GATA-6)
S40Y (p.Ser40Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S40Y (p.Ser40Tyr) variant details
- p.Ser40Tyr
- gnomAD 18-22171263-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.53
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available