D106A (p.Asp106Ala) variant of VWF (von Willebrand factor)
D106A (p.Asp106Ala) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D106A (p.Asp106Ala) variant details
- p.Asp106Ala
- TOPMed rs1428358025
- gnomAD rs1428358025
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.95
- CADD 8.35
- PolyPhen-2 0.32
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available