S42* (p.Ser42Ter) variant of GATA6 (Transcription factor GATA-6)
S42* (p.Ser42Ter) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S42* (p.Ser42Ter) variant details
- p.Ser42Ter
- ExAC rs764615856
- TOPMed rs764615856
- gnomAD rs764615856
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available