S30* (p.Ser30Ter) variant of VWF (von Willebrand factor)
S30* (p.Ser30Ter) in VWF (von Willebrand factor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- gnomAD rs1468538045
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available