p.Tyr18 Ala25del variant of GATA4 (Transcription factor GATA-4)
p.Tyr18 Ala25del in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
p.Tyr18 Ala25del variant details
- rs1453901762
- gnomAD 8-11708353-CCCCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 18.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available