R729Q (p.Arg729Gln) variant of DNMT3A (Q9Y6K1)
R729Q (p.Arg729Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R729Q (p.Arg729Gln) variant details
- p.Arg729Gln
- rs757211277
- ClinGen CA1555717
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53056
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)