K66N (p.Lys66Asn) variant of PLAU (P00749)
K66N (p.Lys66Asn) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
K66N (p.Lys66Asn) variant details
- p.Lys66Asn
- TOPMed rs1162735777
- gnomAD rs1162735777
- Missense
- Variant Prioritization Score for Impact Estimate 0.0801
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.04
- CADD 3.53
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available