D65G (p.Asp65Gly) variant of PLAU (P00749)
D65G (p.Asp65Gly) 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.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- rs183208966
- ClinGen CA5562360
- ClinVar RCV001103432
- 1000Genomes rs183208966
- Uncertain significance
- Quebec platelet disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.78
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.17
- ClinVar: Uncertain significance (Quebec platelet disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)