S36N (p.Ser36Asn) variant of VWF (von Willebrand factor)
S36N (p.Ser36Asn) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- ESP rs374601266
- ExAC rs374601266
- TOPMed rs374601266
- gnomAD rs374601266
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- MetaLR 0.46
- MetaSVM 0.12
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available