A6E (p.Ala6Glu) variant of PLAU (P00749)
A6E (p.Ala6Glu) 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; Quebec platelet disorder; Alzheimer disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- rs371106595
- ClinGen CA5562226
- ClinVar RCV000340376
- ClinVar RCV004021481
- Conflicting interpretations
- not specified; Quebec platelet disorder; Alzheimer disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.24
- MetaLR 0.60
- MetaSVM -0.34
- CADD 18.20
- PolyPhen-2 0.67
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; Quebec platelet disorder; Alzheimer disease type)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)