D141Y (p.Asp141Tyr) variant of VWF (von Willebrand factor)
D141Y (p.Asp141Tyr) in VWF (von Willebrand factor) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D141Y (p.Asp141Tyr) variant details
- p.Asp141Tyr
- rs61753992
- ClinGen CA228559
- ClinVar RCV000086744
- Ensembl rs61753992
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.53
- MetaLR 0.55
- MetaSVM 0.33
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available