D152G (p.Asp152Gly) variant of VWF (von Willebrand factor)
D152G (p.Asp152Gly) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D152G (p.Asp152Gly) variant details
- p.Asp152Gly
- TOPMed rs1328350286
- gnomAD rs1328350286
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.95
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available