S49R (p.Ser49Arg) variant of VWF (von Willebrand factor)
S49R (p.Ser49Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- TOPMed rs1195660161
- gnomAD rs1195660161
- Uncertain significance
- von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.70
- SIFT 0.32
- ClinVar: Uncertain significance (von Willebrand disease type 1; von Willebrand disease type 3; vo)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available