D5E (p.Asp5Glu) variant of GATA6 (Transcription factor GATA-6)
D5E (p.Asp5Glu) 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 not provided; Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- rs1353951147
- ClinGen CA401798293
- ClinVar RCV003929570
- ClinVar RCV004790644
- Uncertain significance
- not provided; Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available