L54I (p.Leu54Ile) variant of CYP2C19 (Cytochrome P450 2C19)
L54I (p.Leu54Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54I (p.Leu54Ile) variant details
- p.Leu54Ile
- gnomAD 10-94762865-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- MetaLR 0.22
- MetaSVM -0.85
- CADD 4.65
- PolyPhen-2 0.16
- SIFT 0.19
- Population evidence available
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.687
- Literature evidence available