V82E (p.Val82Glu) variant of VWF (von Willebrand factor)
V82E (p.Val82Glu) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V82E (p.Val82Glu) variant details
- p.Val82Glu
- TOPMed rs1233127757
- gnomAD rs1233127757
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- MetaLR 0.19
- MetaSVM -0.92
- CADD 22.40
- SIFT 0.47
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available