I47D (p.Ile47Asp) variant of CYP2C9 (Cytochrome P450 2C9)
I47D (p.Ile47Asp) in CYP2C9 (Cytochrome P450 2C9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I47D (p.Ile47Asp) variant details
- p.Ile47Asp
- gnomAD 10-94938820-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available