F136S (p.Phe136Ser) variant of VWF (von Willebrand factor)
F136S (p.Phe136Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F136S (p.Phe136Ser) variant details
- p.Phe136Ser
- gnomAD rs1309918137
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.70
- MetaLR 0.43
- MetaSVM -0.05
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available