K116R (p.Lys116Arg) variant of VWF (von Willebrand factor)
K116R (p.Lys116Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K116R (p.Lys116Arg) variant details
- p.Lys116Arg
- Ensembl rs1945297416
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.00
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available