R398W (p.Arg398Trp) variant of GATA2 (P23769)
R398W (p.Arg398Trp) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R398W (p.Arg398Trp) variant details
- p.Arg398Trp
- rs387906629
- ClinGen CA128572
- cosmic curated COSV62004
- ClinVar RCV000022559
- Pathogenic
- GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphe)
- EBI: Pathogenic (in IMD21)
- UniProt: Pathogenic (in IMD21)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and… (PMID 20040766)
- Cited in: The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. (PMID 21242295)