A12P (p.Ala12Pro) variant of VWF (von Willebrand factor)
A12P (p.Ala12Pro) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- TOPMed rs1945449340
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.98
- CADD 21.60
- PolyPhen-2 0.45
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available