S40S (p.Ser40Ser) variant of GATA6 (Transcription factor GATA-6)
S40S (p.Ser40Ser) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- gnomAD 18-22171264-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available