I42S (p.Ile42Ser) variant of CYP2C19 (Cytochrome P450 2C19)
I42S (p.Ile42Ser) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I42S (p.Ile42Ser) variant details
- p.Ile42Ser
- gnomAD 10-94762830-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.29
- MetaLR 0.24
- MetaSVM -0.77
- CADD 14.90
- PolyPhen-2 0.16
- SIFT 0.06
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.37
- Literature evidence available