S36R (p.Ser36Arg) variant of VWF (von Willebrand factor)
S36R (p.Ser36Arg) in VWF (von Willebrand factor) is a missense 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.
S36R (p.Ser36Arg) variant details
- p.Ser36Arg
- ExAC rs750720570
- gnomAD rs750720570
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.44
- MetaLR 0.35
- MetaSVM -0.34
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available