S41F (p.Ser41Phe) variant of GATA6 (Transcription factor GATA-6)
S41F (p.Ser41Phe) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- gnomAD 18-22171266-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.35
- CADD 25.80
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available