A14D (p.Ala14Asp) variant of VWF (von Willebrand factor)
A14D (p.Ala14Asp) 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.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- ExAC rs747049949
- TOPMed rs747049949
- gnomAD rs747049949
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.97
- CADD 13.20
- PolyPhen-2 0.16
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available