S36T (p.Ser36Thr) variant of VWF (von Willebrand factor)
S36T (p.Ser36Thr) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- ESP rs374601266
- ExAC rs374601266
- TOPMed rs374601266
- gnomAD rs374601266
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.22
- MetaLR 0.29
- MetaSVM -0.52
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available