N145K (p.Asn145Lys) variant of VWF (von Willebrand factor)
N145K (p.Asn145Lys) 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 Hereditary von Willebrand disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N145K (p.Asn145Lys) variant details
- p.Asn145Lys
- rs1591924311
- ClinGen CA383518460
- ClinVar RCV000851790
- ClinVar RCV001284373
- Uncertain significance
- Hereditary von Willebrand disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.34
- MetaLR 0.29
- MetaSVM -0.68
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary von Willebrand disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)