V1314F (p.Val1314Phe) variant of VWF (von Willebrand factor)
V1314F (p.Val1314Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Willebrand disease type 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
V1314F (p.Val1314Phe) variant details
- p.Val1314Phe
- rs61749393
- ClinGen CA228498
- ClinVar RCV000086710
- ClinVar RCV004821266
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.31
- MetaLR 0.49
- MetaSVM -0.25
- PolyPhen-2 0.01
- SIFT 0.03
- EVE 0.11
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available