R50W (p.Arg50Trp) variant of DNMT3A (Q9Y6K1)
R50W (p.Arg50Trp) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- rs1438813586
- ClinGen CA346251633
- cosmic curated COSV10941
- ClinVar RCV002471932
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.51
- MetaLR 0.81
- MetaSVM 0.57
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)