R53K (p.Arg53Lys) variant of DNMT3A (Q9Y6K1)
R53K (p.Arg53Lys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The record also includes variant effect predictions and structural context.
R53K (p.Arg53Lys) variant details
- p.Arg53Lys
- cosmic curated COSV10510
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- MetaLR 0.84
- MetaSVM 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Uncertain significance
- Structural context available