G8R (p.Gly8Arg) variant of VWF (von Willebrand factor)
G8R (p.Gly8Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs201015235
- ClinGen CA6403990
- ClinVar RCV002481154
- ClinVar RCV003485788
- Uncertain significance
- not provided; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.03
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (not provided; von Willebrand disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)