S23L (p.Ser23Leu) variant of CYP2C19 (Cytochrome P450 2C19)
S23L (p.Ser23Leu) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs1182559923
- gnomAD 10-94762769-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.96
- Literature evidence available