I42T (p.Ile42Thr) variant of CYP2C19 (Cytochrome P450 2C19)
I42T (p.Ile42Thr) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- cosmic curated COSV64909
- TOPMed rs1848190829
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- MetaLR 0.23
- MetaSVM -0.80
- CADD 8.70
- PolyPhen-2 0.24
- SIFT 0.18
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.37