V1316L (p.Val1316Leu) variant of VWF (von Willebrand factor)
V1316L (p.Val1316Leu) 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 von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V1316L (p.Val1316Leu) variant details
- p.Val1316Leu
- rs61749397
- ExAC rs61749397
- gnomAD rs61749397
- ClinGen CA383506089
- Uncertain significance
- von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.67
- AlphaMissense 0.45
- MetaLR 0.87
- MetaSVM 0.98
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (von Willebrand disease type 1)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)