M50T (p.Met50Thr) variant of VWF (von Willebrand factor)
M50T (p.Met50Thr) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- Ensembl rs958629333
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- MetaLR 0.25
- MetaSVM -0.40
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available