D46N (p.Asp46Asn) variant of GATA2 (P23769)
D46N (p.Asp46Asn) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs370750401
- ClinGen CA2600097
- ClinVar RCV000233976
- ClinVar RCV001262682
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.79
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)