R96Q (p.Arg96Gln) variant of DNMT3A (Q9Y6K1)
R96Q (p.Arg96Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia; Heyn-Sproul-Jackson syndrome; Tatton-Brown-Rahman overgr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R96Q (p.Arg96Gln) variant details
- p.Arg96Gln
- rs771499883
- ClinGen CA1556496
- ClinVar RCV002022118
- ClinVar RCV004746563
- Uncertain significance
- Acute myeloid leukemia; Heyn-Sproul-Jackson syndrome; Tatton-Brown-Rahman overgr
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.28
- MetaLR 0.62
- MetaSVM 0.14
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Acute myeloid leukemia; Heyn-Sproul-Jackson syndrome; Tatton-Bro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)