S4S (p.Ser4Ser) variant of GATA4 (Transcription factor GATA-4)
S4S (p.Ser4Ser) in GATA4 (Transcription factor GATA-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1247823780
- gnomAD 8-11708324-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 14.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available