L84F (p.Leu84Phe) variant of VWF (von Willebrand factor)
L84F (p.Leu84Phe) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- rs372664002
- ClinGen CA6403851
- ClinVar RCV000520820
- ESP rs372664002
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.58
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available