R53S (p.Arg53Ser) variant of VKORC1 (Q9BQB6)
R53S (p.Arg53Ser) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R53S (p.Arg53Ser) variant details
- p.Arg53Ser
- ExAC rs781304132
- TOPMed rs781304132
- gnomAD rs781304132
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.78
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available