G83D (p.Gly83Asp) variant of DNMT3A (Q9Y6K1)
G83D (p.Gly83Asp) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- rs2031972346
- ClinGen CA346084059
- cosmic curated COSV53069
- ClinVar RCV002586123
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.31
- MetaLR 0.68
- MetaSVM 0.51
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)