G15E (p.Gly15Glu) variant of GATA6 (Transcription factor GATA-6)
G15E (p.Gly15Glu) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G15E (p.Gly15Glu) variant details
- p.Gly15Glu
- ExAC rs776000244
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.54
- CADD 24.70
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available