I64L (p.Ile64Leu) variant of PLAU (P00749)
I64L (p.Ile64Leu) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I64L (p.Ile64Leu) variant details
- p.Ile64Leu
- rs1450169805
- ClinGen CA377249355
- ClinVar RCV004257142
- TOPMed rs1450169805
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- MetaLR 0.16
- MetaSVM -0.90
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available