G1415C (p.Gly1415Cys) variant of VWF (von Willebrand factor)
G1415C (p.Gly1415Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G1415C (p.Gly1415Cys) variant details
- p.Gly1415Cys
- TOPMed rs1400741237
- gnomAD rs1400741237
- Uncertain significance
- von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (von Willebrand disease type 1; von Willebrand disease type 3; vo)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available