M50V (p.Met50Val) variant of VWF (von Willebrand factor)
M50V (p.Met50Val) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of von Willebrand disease type 2. The record also includes variant effect predictions, published literature, and structural context.
M50V (p.Met50Val) variant details
- p.Met50Val
- rs2136535487
- ClinGen CA383508215
- ClinVar RCV001801310
- Ensembl rs2136535487
- Uncertain significance
- von Willebrand disease type 2
- Missense
- MutPred 0.52
- ClinVar: Uncertain significance (von Willebrand disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)