R5I (p.Arg5Ile) variant of VWF (von Willebrand factor)
R5I (p.Arg5Ile) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R5I (p.Arg5Ile) variant details
- p.Arg5Ile
- Ensembl rs1945449700
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.99
- CADD 18.00
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available