R882H (p.Arg882His) variant of DNMT3A (Q9Y6K1)
R882H (p.Arg882His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R882H (p.Arg882His) variant details
- p.Arg882His
- rs147001633
- ClinGen CA1555488
- NCI-TCGA Cosmic COSV5303
- cosmic curated COSV53036
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.74
- MetaLR 0.86
- MetaSVM 0.89
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS and AML)
- UniProt: Pathogenic (in TBRS and AML)
- Population evidence available
- Structural context available
- Cited in: DNMT3A mutations in acute myeloid leukemia. (PMID 21067377)
- Cited in: Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation… (PMID 21828135)