A33T (p.Ala33Thr) variant of GATA4 (Transcription factor GATA-4)
A33T (p.Ala33Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- gnomAD 8-11708409-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.47
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available