R33C (p.Arg33Cys) variant of DNMT3A (Q9Y6K1)
R33C (p.Arg33Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs758534627
- ClinGen CA1556551
- cosmic curated COSV53044
- ClinVar RCV003747455
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.44
- MetaLR 0.74
- MetaSVM 0.10
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)