E39K (p.Glu39Lys) variant of UNG (Uracil-DNA glycosylase)
E39K (p.Glu39Lys) in UNG (Uracil-DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD 12-109097794-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available