A372T (p.Ala372Thr) variant of GATA2 (P23769)
A372T (p.Ala372Thr) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
A372T (p.Ala372Thr) variant details
- p.Ala372Thr
- rs936826425
- ClinGen CA354413511
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62002
- Likely pathogenic
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- REVEL 0.99
- MetaLR 1.00
- MetaSVM 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)