R1315H (p.Arg1315His) variant of VWF (von Willebrand factor)
R1315H (p.Arg1315His) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1315H (p.Arg1315His) variant details
- p.Arg1315His
- rs61749396
- ClinGen CA228504
- ClinVar RCV000086713
- ClinVar RCV002466429
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.81
- AlphaMissense 0.77
- MetaLR 0.87
- MetaSVM 1.00
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)