S23I (p.Ser23Ile) variant of CYP2C19 (Cytochrome P450 2C19)
S23I (p.Ser23Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S23I (p.Ser23Ile) variant details
- p.Ser23Ile
- gnomAD 10-94762773-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -1.04
- CADD 7.44
- PolyPhen-2 0.63
- SIFT 0.36
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.96
- Literature evidence available