A30A (p.Ala30Ala) variant of GATA4 (Transcription factor GATA-4)
A30A (p.Ala30Ala) in GATA4 (Transcription factor GATA-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs768982638
- gnomAD 8-11708402-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0932
- CADD 1.77
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available