D23N (p.Asp23Asn) variant of GATA2 (P23769)
D23N (p.Asp23Asn) 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; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi. 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.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs760183425
- ClinGen CA2600108
- ClinVar RCV001367548
- ClinVar RCV004980387
- Conflicting interpretations
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.52
- AlphaMissense 0.56
- MetaLR 0.93
- MetaSVM 1.07
- CADD 24.00
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)