L7W (p.Leu7Trp) variant of UNG (Uracil-DNA glycosylase)
L7W (p.Leu7Trp) in UNG (Uracil-DNA glycosylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L7W (p.Leu7Trp) variant details
- p.Leu7Trp
- rs764794281
- gnomAD 12-109098351-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available