E90D (p.Glu90Asp) variant of VWF (von Willebrand factor)
E90D (p.Glu90Asp) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of von Willebrand disease type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- rs1204340960
- ClinGen CA383519499
- ClinVar RCV003315194
- ClinVar RCV003384366
- Uncertain significance
- von Willebrand disease type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- MetaLR 0.13
- MetaSVM -1.02
- CADD 19.00
- PolyPhen-2 0.99
- SIFT 0.28
- ClinVar: Uncertain significance (von Willebrand disease type 1; Inborn genetic diseases)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)