P1337L (p.Pro1337Leu) variant of VWF (von Willebrand factor)
P1337L (p.Pro1337Leu) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P1337L (p.Pro1337Leu) variant details
- p.Pro1337Leu
- rs61749400
- ClinGen CA228510
- ClinVar RCV000086718
- ClinVar RCV002222015
- Likely pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.58
- MetaLR 0.69
- MetaSVM 0.30
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.22
- ClinVar: Likely pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)