A33A (p.Ala33Ala) variant of GATA4 (Transcription factor GATA-4)
A33A (p.Ala33Ala) in GATA4 (Transcription factor GATA-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs56166237
- gnomAD 8-11708411-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 7.39
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. (PMID 30834692)
- Cited in: Search of Somatic Mutations of NKX2-5 and GATA4 Genes in Chinese Patients with Sporadic Congenital Heart Disease. (PMID 30121862)