S41Y (p.Ser41Tyr) variant of GATA6 (Transcription factor GATA-6)
S41Y (p.Ser41Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S41Y (p.Ser41Tyr) variant details
- p.Ser41Tyr
- gnomAD 18-22171266-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.24
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available