P11S (p.Pro11Ser) variant of GATA6 (Transcription factor GATA-6)
P11S (p.Pro11Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- gnomAD 18-22171175-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available