A33P (p.Ala33Pro) variant of VWF (von Willebrand factor)
A33P (p.Ala33Pro) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- 1000Genomes rs368132716
- ESP rs368132716
- ExAC rs368132716
- TOPMed rs368132716
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.25
- MetaLR 0.17
- MetaSVM -0.98
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available