R79L (p.Arg79Leu) variant of PLAU (P00749)
R79L (p.Arg79Leu) in PLAU (P00749) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R79L (p.Arg79Leu) variant details
- p.Arg79Leu
- 1000Genomes rs201299522
- ESP rs201299522
- ExAC rs201299522
- TOPMed rs201299522
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.65
- MetaLR 0.56
- MetaSVM 0.29
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available