A19T (p.Ala19Thr) variant of GATA6 (Transcription factor GATA-6)
A19T (p.Ala19Thr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 18-22171199-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.35
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available