F118L (p.Phe118Leu) variant of CYP2A6 (Cytochrome P450 2A6)
F118L (p.Phe118Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2A6*25 and allele CYP2A6*26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F118L (p.Phe118Leu) variant details
- p.Phe118Leu
- ExAC rs760366656
- TOPMed rs760366656
- gnomAD rs760366656
- Benign
- in allele CYP2A6*25 and allele CYP2A6*26
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.11
- EBI: Benign (in allele CYP2A6*25 and allele CYP2A6*26)
- UniProt: Benign (in allele CYP2A6*25 and allele CYP2A6*26)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)
- Cited in: Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent. (PMID 18360915)