V9M (p.Val9Met) variant of VWF (von Willebrand factor)
V9M (p.Val9Met) in VWF (von Willebrand factor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- ExAC rs768885457
- TOPMed rs768885457
- gnomAD rs768885457
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.97
- CADD 8.15
- PolyPhen-2 0.02
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available