W10C (p.Trp10Cys) variant of GATA2 (P23769)
W10C (p.Trp10Cys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs367785289
- cosmic curated COSV62004
- ClinGen CA2600122
- ClinVar RCV000551947
- Conflicting interpretations
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- 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)