W330R (p.Trp330Arg) variant of DNMT3A (Q9Y6K1)
W330R (p.Trp330Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Heyn-Sproul-Jackson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
W330R (p.Trp330Arg) variant details
- p.Trp330Arg
- rs1573340475
- ClinGen CA346074614
- ClinVar RCV000986095
- Ensembl rs1573340475
- Pathogenic
- Heyn-Sproul-Jackson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Heyn-Sproul-Jackson syndrome)
- EBI: Pathogenic (in HESJAS)
- UniProt: Pathogenic (in HESJAS)
- Structural context available
- Cited in: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. (PMID 30478443)