T354M (p.Thr354Met) variant of GATA2 (P23769)
T354M (p.Thr354Met) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T354M (p.Thr354Met) variant details
- p.Thr354Met
- rs387906631
- ClinGen CA128580
- NCI-TCGA Cosmic COSV6200
- Pathogenic
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Pathogenic (in IMD21 and MDS)
- UniProt: Pathogenic (in IMD21 and MDS)
- 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)