S33C (p.Ser33Cys) variant of GATA6 (Transcription factor GATA-6)
S33C (p.Ser33Cys) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- gnomAD 18-22171242-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.48
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available