L17Q (p.Leu17Gln) variant of VKORC1 (Q9BQB6)
L17Q (p.Leu17Gln) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD rs1158566246
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.68
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.14
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available