G6A (p.Gly6Ala) variant of GATA6 (Transcription factor GATA-6)
G6A (p.Gly6Ala) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- ExAC rs774239468
- gnomAD rs774239468
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available