S24F (p.Ser24Phe) variant of GATA6 (Transcription factor GATA-6)
S24F (p.Ser24Phe) 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.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- gnomAD 18-22171215-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.46
- CADD 26.20
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available