R58R (p.Arg58Arg) variant of VKORC1 (Q9BQB6)
R58R (p.Arg58Arg) in VKORC1 (Q9BQB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R58R (p.Arg58Arg) variant details
- p.Arg58Arg
- rs1250004939
- gnomAD 16-31093482-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.60
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available