A17T (p.Ala17Thr) variant of GATA6 (Transcription factor GATA-6)
A17T (p.Ala17Thr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- TOPMed rs993471660
- gnomAD rs993471660
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available