S18C (p.Ser18Cys) variant of CYP1A2 (Cytochrome P450 1A2)
S18C (p.Ser18Cys) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- rs17861152
- UniProt VAR 023196
- 1000Genomes rs17861152
- ESP rs17861152
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.83
- SIFT 0.18
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)
- Cited in: Toward the evaluation of function in genetic variability: characterizing human SNP frequencies and establishing… (PMID 15643613)