I48N (p.Ile48Asn) variant of PLAU (P00749)
I48N (p.Ile48Asn) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Quebec platelet disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I48N (p.Ile48Asn) variant details
- p.Ile48Asn
- rs764051398
- ClinGen CA377249007
- ClinVar RCV001108612
- ExAC rs764051398
- Uncertain significance
- Quebec platelet disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.92
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Quebec platelet disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)