D20G (p.Asp20Gly) variant of GATA6 (Transcription factor GATA-6)
D20G (p.Asp20Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- TOPMed rs1202663626
- gnomAD rs1202663626
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.41
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available