V70F (p.Val70Phe) variant of GATA2 (P23769)
V70F (p.Val70Phe) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GATA2 deficiency with susceptibility to MDS/AML; Myelodysplastic syndrome; Monoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V70F (p.Val70Phe) variant details
- p.Val70Phe
- rs570531959
- ClinGen CA2600083
- ClinVar RCV000555700
- ClinVar RCV003224333
- Conflicting interpretations
- GATA2 deficiency with susceptibility to MDS/AML; Myelodysplastic syndrome; Monoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (GATA2 deficiency with susceptibility to MDS/AML; Myelodysplastic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)