Q72E (p.Gln72Glu) variant of VKORC1 (Q9BQB6)
Q72E (p.Gln72Glu) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- gnomAD 16-31093381-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.23
- CADD 8.07
- PolyPhen-2 0.02
- SIFT 0.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available