L120V (p.Leu120Val) variant of VWF (von Willebrand factor)
L120V (p.Leu120Val) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- ExAC rs777585191
- TOPMed rs777585191
- gnomAD rs777585191
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- MetaLR 0.16
- MetaSVM -0.96
- CADD 19.40
- PolyPhen-2 0.99
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available