R46W (p.Arg46Trp) variant of DNMT3A (Q9Y6K1)
R46W (p.Arg46Trp) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- cosmic curated COSV53070
- TOPMed rs1367571644
- gnomAD rs1367571644
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.63
- MetaLR 0.82
- MetaSVM 0.86
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available