V1314D (p.Val1314Asp) variant of VWF (von Willebrand factor)
V1314D (p.Val1314Asp) 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 0.54 / 1. The record also includes structural context.
V1314D (p.Val1314Asp) variant details
- p.Val1314Asp
- rs61749394
- ClinGen CA228500
- ClinVar RCV000086711
- ClinVar RCV004821267
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.89
- MetaLR 0.61
- MetaSVM 0.30
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.15
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available