G18D (p.Gly18Asp) variant of GATA6 (Transcription factor GATA-6)
G18D (p.Gly18Asp) 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 and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- ExAC rs752348718
- gnomAD rs752348718
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.35
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available