K55E (p.Lys55Glu) variant of PLAU (P00749)
K55E (p.Lys55Glu) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Quebec platelet disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- rs147372618
- ClinGen CA5562335
- ClinVar RCV000306361
- ClinVar RCV004755859
- Benign/Likely benign
- Quebec platelet disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.05
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.78
- ClinVar: Benign/Likely benign (Quebec platelet disorder; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)