L5W (p.Leu5Trp) variant of PLAU (P00749)
L5W (p.Leu5Trp) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L5W (p.Leu5Trp) variant details
- p.Leu5Trp
- gnomAD 10-73911567-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available