P112S (p.Pro112Ser) variant of VWF (von Willebrand factor)
P112S (p.Pro112Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P112S (p.Pro112Ser) variant details
- p.Pro112Ser
- gnomAD rs1280452644
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.73
- MetaLR 0.55
- MetaSVM 0.21
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available