G1324A (p.Gly1324Ala) variant of VWF (von Willebrand factor)
G1324A (p.Gly1324Ala) 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 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
G1324A (p.Gly1324Ala) variant details
- p.Gly1324Ala
- rs61749399
- ClinGen CA228508
- ClinVar RCV000086717
- ClinVar RCV004821269
- Pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.22
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.21
- ClinVar: Pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available