T1156M (p.Thr1156Met) variant of VWF (von Willebrand factor)
T1156M (p.Thr1156Met) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of von Willebrand disorder; Hereditary von Willebrand disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T1156M (p.Thr1156Met) variant details
- p.Thr1156Met
- rs267607328
- ClinGen CA228414
- ClinVar RCV000086659
- ClinVar RCV000851957
- Pathogenic/Likely pathogenic
- von Willebrand disorder; Hereditary von Willebrand disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; Hereditary von Willebrand disease; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)