S1506L (p.Ser1506Leu) variant of VWF (von Willebrand factor)
S1506L (p.Ser1506Leu) 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 not provided; Hereditary von Willebrand disease; von Willebrand disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S1506L (p.Ser1506Leu) variant details
- p.Ser1506Leu
- rs61750100
- ClinGen CA228615
- ClinVar RCV000086774
- ClinVar RCV000852128
- Pathogenic/Likely pathogenic
- not provided; Hereditary von Willebrand disease; von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary von Willebrand disease; von Willebrand)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00024)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)