S1285F (p.Ser1285Phe) variant of VWF (von Willebrand factor)
S1285F (p.Ser1285Phe) 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 0.91 / 1. The record also includes published literature and structural context.
S1285F (p.Ser1285Phe) variant details
- p.Ser1285Phe
- rs61749380
- ClinGen CA114164
- ClinVar RCV000000339
- ClinVar RCV000086691
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with… (PMID 12588351)