G18R (p.Gly18Arg) variant of GATA6 (Transcription factor GATA-6)
G18R (p.Gly18Arg) 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 0.54 / 1. The record also includes structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs2033034160
- ClinGen CA401798441
- ClinVar RCV001063106
- Ensembl rs2033034160
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM 0.03
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available