E86K (p.Glu86Lys) variant of DNMT3A (Q9Y6K1)
E86K (p.Glu86Lys) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- gnomAD rs1413294518
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.38
- MetaLR 0.71
- MetaSVM 0.54
- CADD 23.90
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available