L150V (p.Leu150Val) variant of VWF (von Willebrand factor)
L150V (p.Leu150Val) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L150V (p.Leu150Val) variant details
- p.Leu150Val
- ExAC rs768721653
- gnomAD rs768721653
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.72
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available