S18F (p.Ser18Phe) variant of CYP1A2 (Cytochrome P450 1A2)
S18F (p.Ser18Phe) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- 1000Genomes rs17861152
- ESP rs17861152
- TOPMed rs17861152
- gnomAD rs17861152
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- CADD 12.90
- PolyPhen-2 0.03
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available