E31Q (p.Glu31Gln) variant of GATA6 (Transcription factor GATA-6)
E31Q (p.Glu31Gln) 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 0.64 / 1. The record also includes structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- rs780160108
- ClinGen CA401798605
- ClinVar RCV002013171
- ExAC rs780160108
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.29
- MetaLR 0.84
- MetaSVM 0.47
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.16
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available