G1631D (p.Gly1631Asp) variant of VWF (von Willebrand factor)
G1631D (p.Gly1631Asp) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of von Willebrand disease type 2; von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G1631D (p.Gly1631Asp) variant details
- p.Gly1631Asp
- rs2136411659
- ClinGen CA383498752
- ClinVar RCV001838831
- ClinVar RCV002243467
- Pathogenic/Likely pathogenic
- von Willebrand disease type 2; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- CADD 24.30
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disease type 2; von Willebrand disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)