F6C (p.Phe6Cys) variant of VWF (von Willebrand factor)
F6C (p.Phe6Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F6C (p.Phe6Cys) variant details
- p.Phe6Cys
- TOPMed rs1478605207
- gnomAD rs1478605207
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.05
- CADD 18.20
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available