L29I (p.Leu29Ile) variant of CYP2C9 (Cytochrome P450 2C9)
L29I (p.Leu29Ile) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L29I (p.Leu29Ile) variant details
- p.Leu29Ile
- gnomAD 10-94938767-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.11
- CADD 16.30
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available