F21L (p.Phe21Leu) variant of CYP1A2 (Cytochrome P450 1A2)
F21L (p.Phe21Leu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP1A2*2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs56160784
- UniProt VAR 008349
- ExAC rs56160784
- TOPMed rs56160784
- Benign
- in allele CYP1A2*2
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.27
- EBI: Benign (in allele CYP1A2*2)
- UniProt: Benign (in allele CYP1A2*2)
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Cited in: Detection of a novel cytochrome P-450 1A2 polymorphism (F21L) in Chinese. (PMID 9884316)