R79Q (p.Arg79Gln) variant of PLAU (P00749)
R79Q (p.Arg79Gln) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Quebec platelet disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R79Q (p.Arg79Gln) variant details
- p.Arg79Gln
- rs201299522
- ClinGen CA5562366
- cosmic curated COSV65642
- ClinVar RCV000271088
- Conflicting interpretations
- not specified; not provided; Quebec platelet disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.59
- MetaLR 0.51
- MetaSVM 0.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Quebec platelet disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)