G18C (p.Gly18Cys) variant of GATA6 (Transcription factor GATA-6)
G18C (p.Gly18Cys) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 18-22171196-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.34
- CADD 14.40
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available