R29K (p.Arg29Lys) variant of VWF (von Willebrand factor)
R29K (p.Arg29Lys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- ExAC rs755672837
- gnomAD rs755672837
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.69
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available