A17S (p.Ala17Ser) variant of GATA6 (Transcription factor GATA-6)
A17S (p.Ala17Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs993471660
- gnomAD rs993471660
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.33
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available