E31D (p.Glu31Asp) variant of GATA6 (Transcription factor GATA-6)
E31D (p.Glu31Asp) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- TOPMed rs1376900662
- gnomAD rs1376900662
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.35
- CADD 5.58
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available