G19R (p.Gly19Arg) variant of VWF (von Willebrand factor)
G19R (p.Gly19Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of von Willebrand disease type 1; von Willebrand disease type 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs61753983
- ClinGen CA228729
- ClinVar RCV000086844
- ClinVar RCV002264667
- Conflicting interpretations
- von Willebrand disease type 1; von Willebrand disease type 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.84
- CADD 33.00
- PolyPhen-2 0.62
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (von Willebrand disease type 1; von Willebrand disease type 3; no)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)