S23C (p.Ser23Cys) variant of CYP2C19 (Cytochrome P450 2C19)
S23C (p.Ser23Cys) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- gnomAD 10-94762772-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- MetaLR 0.25
- MetaSVM -0.80
- CADD 19.10
- PolyPhen-2 0.90
- SIFT 0.12
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.96
- Literature evidence available