L1774S (p.Leu1774Ser) variant of VWF (von Willebrand factor)
L1774S (p.Leu1774Ser) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L1774S (p.Leu1774Ser) variant details
- p.Leu1774Ser
- rs61750605
- ClinGen CA228710
- ClinVar RCV000086833
- ClinVar RCV000852152
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.74
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)