C373R (p.Cys373Arg) variant of GATA2 (P23769)
C373R (p.Cys373Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C373R (p.Cys373Arg) variant details
- p.Cys373Arg
- rs387906633
- ClinGen CA128589
- ClinVar RCV000022572
- ClinVar RCV001542161
- Pathogenic/Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Pathogenic (in LMPM)
- UniProt: Pathogenic (in LMPM)
- Structural context available
- Cited in: Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. (PMID 20803646)
- Cited in: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger… (PMID 21892158)