A133T (p.Ala133Thr) variant of VWF (von Willebrand factor)
A133T (p.Ala133Thr) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A133T (p.Ala133Thr) variant details
- p.Ala133Thr
- TOPMed rs1190459219
- gnomAD rs1190459219
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.01
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available