S33P (p.Ser33Pro) variant of GATA6 (Transcription factor GATA-6)
S33P (p.Ser33Pro) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S33P (p.Ser33Pro) variant details
- p.Ser33Pro
- gnomAD 18-22171241-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available