K128R (p.Lys128Arg) variant of VWF (von Willebrand factor)
K128R (p.Lys128Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K128R (p.Lys128Arg) variant details
- p.Lys128Arg
- NCI-TCGA Cosmic COSV9977
- gnomAD rs1945296746
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.69
- CADD 24.20
- PolyPhen-2 0.48
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available