L17I (p.Leu17Ile) variant of CYP2C19 (Cytochrome P450 2C19)
L17I (p.Leu17Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- gnomAD 10-94762754-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.84
- CADD 12.00
- PolyPhen-2 0.16
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.13
- Literature evidence available