V54I (p.Val54Ile) variant of VKORC1 (Q9BQB6)
V54I (p.Val54Ile) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- gnomAD rs1299287925
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.70
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available