R771Q (p.Arg771Gln) variant of DNMT3A (Q9Y6K1)
R771Q (p.Arg771Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome; Inborn genetic diseases; Acute myeloid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R771Q (p.Arg771Gln) variant details
- p.Arg771Gln
- rs757823678
- ClinGen CA1555657
- NCI-TCGA Cosmic COSV5303
- cosmic curated COSV53037
- Pathogenic/Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome; Inborn genetic diseases; Acute myeloid
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.90
- CADD 29.10
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome; Inborn genetic diseases)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Population evidence available
- Structural context available
- Cited in: Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. (PMID 27701732)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)