S37F (p.Ser37Phe) variant of GATA6 (Transcription factor GATA-6)
S37F (p.Ser37Phe) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- rs776255080
- ClinGen CA8908811
- ClinVar RCV001905112
- ExAC rs776255080
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.51
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available