A19E (p.Ala19Glu) variant of GATA6 (Transcription factor GATA-6)
A19E (p.Ala19Glu) 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 0.44 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- rs758867858
- ClinGen CA8908798
- ClinVar RCV002938728
- ClinVar RCV003154076
- Uncertain significance
- not provided; Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.00
- 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 0.00013)
- Structural context available