R23Q (p.Arg23Gln) variant of DNMT3A (Q9Y6K1)
R23Q (p.Arg23Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs1174462913
- ClinGen CA346254286
- cosmic curated COSV10458
- ClinVar RCV002756282
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.32
- MetaLR 0.75
- MetaSVM 0.58
- CADD 22.60
- PolyPhen-2 0.24
- SIFT 0.34
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- 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)