K116N (p.Lys116Asn) variant of VWF (von Willebrand factor)
K116N (p.Lys116Asn) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K116N (p.Lys116Asn) variant details
- p.Lys116Asn
- gnomAD rs1281205147
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.03
- CADD 4.32
- PolyPhen-2 0.25
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available