R79P (p.Arg79Pro) variant of PLAU (P00749)
R79P (p.Arg79Pro) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Quebec platelet disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R79P (p.Arg79Pro) variant details
- p.Arg79Pro
- rs201299522
- ClinGen CA5562367
- ClinVar RCV001103433
- 1000Genomes rs201299522
- Likely benign
- Quebec platelet disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.73
- MetaLR 0.66
- MetaSVM 0.63
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Quebec platelet disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)