T47N (p.Thr47Asn) variant of VKORC1 (Q9BQB6)
T47N (p.Thr47Asn) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- gnomAD 16-31093471-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 6.12
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available