R96W (p.Arg96Trp) variant of DNMT3A (Q9Y6K1)
R96W (p.Arg96Trp) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R96W (p.Arg96Trp) variant details
- p.Arg96Trp
- ExAC rs775033041
- gnomAD rs775033041
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.40
- MetaLR 0.78
- MetaSVM 0.71
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available