R53C (p.Arg53Cys) variant of VKORC1 (Q9BQB6)
R53C (p.Arg53Cys) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- ExAC rs781304132
- TOPMed rs781304132
- gnomAD rs781304132
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available