S71L (p.Ser71Leu) variant of VWF (von Willebrand factor)
S71L (p.Ser71Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of VWF-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S71L (p.Ser71Leu) variant details
- p.Ser71Leu
- rs62643619
- ClinGen CA6403871
- ClinVar RCV004552517
- ExAC rs62643619
- Uncertain significance
- VWF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.40
- MetaLR 0.41
- MetaSVM -0.17
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (VWF-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available