L5V (p.Leu5Val) variant of PLAU (P00749)
L5V (p.Leu5Val) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- Ensembl rs2136185037
- Missense
- Variant Prioritization Score for Impact Estimate 0.0609
- REVEL 0.06
- CADD 3.03
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available