P32S (p.Pro32Ser) variant of GATA6 (Transcription factor GATA-6)
P32S (p.Pro32Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD 18-22171238-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- CADD 17.40
- PolyPhen-2 0.14
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available