S33T (p.Ser33Thr) variant of GATA6 (Transcription factor GATA-6)
S33T (p.Ser33Thr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S33T (p.Ser33Thr) variant details
- p.Ser33Thr
- gnomAD 18-22171241-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available