G58R (p.Gly58Arg) variant of PLAU (P00749)
G58R (p.Gly58Arg) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Quebec platelet disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs55744193
- ClinGen CA277643
- cosmic curated COSV65640
- ClinVar RCV000201293
- Benign/Likely benign
- not specified; not provided; Quebec platelet disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.03
- CADD 15.90
- PolyPhen-2 0.10
- SIFT 0.53
- ClinVar: Benign/Likely benign (not specified; not provided; Quebec platelet disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.04)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)