G1324S (p.Gly1324Ser) variant of VWF (von Willebrand factor)
G1324S (p.Gly1324Ser) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of von Willebrand disease type 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G1324S (p.Gly1324Ser) variant details
- p.Gly1324Ser
- rs61749398
- ClinGen CA114147
- ClinVar RCV000000327
- ClinVar RCV000086716
- Pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.72
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor… (PMID 1409710)
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)