E31K (p.Glu31Lys) variant of GATA6 (Transcription factor GATA-6)
E31K (p.Glu31Lys) 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 0.51 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs780160108
- ClinGen CA8908805
- ClinVar RCV001944585
- ExAC rs780160108
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.35
- AlphaMissense 0.29
- MetaLR 0.84
- MetaSVM 0.47
- CADD 24.30
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available