R749S (p.Arg749Ser) variant of DNMT3A (Q9Y6K1)
R749S (p.Arg749Ser) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R749S (p.Arg749Ser) variant details
- p.Arg749Ser
- rs754613602
- ClinGen CA346069992
- ClinVar RCV003118953
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.88
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance (in TBRS)
- UniProt: Uncertain significance (in TBRS)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)