R882S (p.Arg882Ser) variant of DNMT3A (Q9Y6K1)
R882S (p.Arg882Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R882S (p.Arg882Ser) variant details
- p.Arg882Ser
- rs377577594
- ClinGen CA16602367
- cosmic curated COSV53037
- ClinVar RCV001782899
- Conflicting interpretations
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.09
- CADD 29.50
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Pathogenic (in a patient with chronic myelomonocytic leukemia)
- UniProt: Pathogenic (in a patient with chronic myelomonocytic leukemia)
- Population evidence available
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)