R19W (p.Arg19Trp) variant of DNMT3A (Q9Y6K1)
R19W (p.Arg19Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs959218576
- ClinGen CA44279227
- cosmic curated COSV53037
- ClinVar RCV002644415
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.54
- MetaLR 0.74
- MetaSVM 0.53
- CADD 29.30
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)