V40A (p.Val40Ala) variant of PLAU (P00749)
V40A (p.Val40Ala) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- TOPMed rs1025371355
- gnomAD rs1025371355
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- MetaLR 0.57
- MetaSVM -0.02
- CADD 23.70
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available