R58S (p.Arg58Ser) variant of VKORC1 (Q9BQB6)
R58S (p.Arg58Ser) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R58S (p.Arg58Ser) variant details
- p.Arg58Ser
- gnomAD 16-31093421-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.80
- CADD 26.20
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available