L1361S (p.Leu1361Ser) variant of VWF (von Willebrand factor)
L1361S (p.Leu1361Ser) 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 von Willebrand disease type 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L1361S (p.Leu1361Ser) variant details
- p.Leu1361Ser
- rs61749408
- ClinGen CA228528
- ClinVar RCV000086728
- ClinVar RCV000678768
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)