I16V (p.Ile16Val) variant of VWF (von Willebrand factor)
I16V (p.Ile16Val) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- TOPMed rs1945449279
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.01
- CADD 8.58
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available