R81K (p.Arg81Lys) variant of VWF (von Willebrand factor)
R81K (p.Arg81Lys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R81K (p.Arg81Lys) variant details
- p.Arg81Lys
- gnomAD rs1274318204
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.08
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available