S83R (p.Ser83Arg) variant of VWF (von Willebrand factor)
S83R (p.Ser83Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S83R (p.Ser83Arg) variant details
- p.Ser83Arg
- TOPMed rs1335972884
- gnomAD rs1335972884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.32
- MetaLR 0.26
- MetaSVM -0.65
- CADD 21.50
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available