L7E (p.Leu7Glu) variant of UNG (Uracil-DNA glycosylase)
L7E (p.Leu7Glu) in UNG (Uracil-DNA glycosylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L7E (p.Leu7Glu) variant details
- p.Leu7Glu
- rs2042149510
- gnomAD 12-109098401-CTT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available