T47I (p.Thr47Ile) variant of VKORC1 (Q9BQB6)
T47I (p.Thr47Ile) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- ExAC rs772860822
- TOPMed rs772860822
- gnomAD rs772860822
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.54
- CADD 22.40
- PolyPhen-2 0.31
- SIFT 0.15
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available