G1415D (p.Gly1415Asp) variant of VWF (von Willebrand factor)
G1415D (p.Gly1415Asp) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of von Willebrand disease type 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G1415D (p.Gly1415Asp) variant details
- p.Gly1415Asp
- rs61750080
- ClinGen CA228567
- ClinVar RCV000086748
- ClinVar RCV004821271
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.82
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available