G18S (p.Gly18Ser) variant of GATA6 (Transcription factor GATA-6)
G18S (p.Gly18Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD 18-22171196-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.31
- CADD 7.86
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available