S40F (p.Ser40Phe) variant of GATA6 (Transcription factor GATA-6)
S40F (p.Ser40Phe) 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 0.75 / 1. The record also includes structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- rs2033036579
- ClinGen CA401798723
- ClinVar RCV001246759
- Ensembl rs2033036579
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available