V102M (p.Val102Met) variant of VWF (von Willebrand factor)
V102M (p.Val102Met) 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 Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V102M (p.Val102Met) variant details
- p.Val102Met
- rs147514785
- ClinGen CA6403841
- ClinVar RCV001553119
- ClinVar RCV004587178
- Uncertain significance
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.25
- MetaLR 0.43
- MetaSVM -0.47
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary von Willebrand disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)