A19E (p.Ala19Glu) variant of GATA2 (P23769)
A19E (p.Ala19Glu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD rs1361789790
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available