I42L (p.Ile42Leu) variant of CYP2C19 (Cytochrome P450 2C19)
I42L (p.Ile42Leu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I42L (p.Ile42Leu) variant details
- p.Ile42Leu
- gnomAD 10-94762829-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0809
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.01
- CADD 2.42
- PolyPhen-2 0.02
- SIFT 0.48
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.37
- Literature evidence available