E25K (p.Glu25Lys) variant of UNG (Uracil-DNA glycosylase)
E25K (p.Glu25Lys) in UNG (Uracil-DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- gnomAD 12-109097752-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.11
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.34
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available