E6Q (p.Glu6Gln) variant of GATA2 (P23769)
E6Q (p.Glu6Gln) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- rs1576750018
- ClinGen CA915941571
- ClinVar RCV000812513
- ClinVar RCV005328407
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.47
- AlphaMissense 0.71
- MetaLR 0.80
- MetaSVM 0.77
- CADD 24.50
- PolyPhen-2 0.36
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)