L1460F (p.Leu1460Phe) variant of VWF (von Willebrand factor)
L1460F (p.Leu1460Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L1460F (p.Leu1460Phe) variant details
- p.Leu1460Phe
- rs61750088
- ClinGen CA6402543
- ClinVar RCV001284374
- ExAC rs61750088
- Likely pathogenic
- not provided; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.82
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.80
- PolyPhen-2 0.93
- ClinVar: Likely pathogenic (not provided; Hereditary von Willebrand disease)
- EBI: Likely pathogenic (in VWD2)
- UniProt: Likely pathogenic (in VWD2)
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available