I42V (p.Ile42Val) variant of CYP2C19 (Cytochrome P450 2C19)
I42V (p.Ile42Val) 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, and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- 1000Genomes rs559087813
- ExAC rs559087813
- gnomAD rs559087813
- Missense
- Variant Prioritization Score for Impact Estimate 0.0778
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -1.03
- CADD 1.51
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.37