Q21L (p.Gln21Leu) variant of CYP2B6 (Cytochrome P450 2B6)
Q21L (p.Gln21Leu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CYP2B6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q21L (p.Gln21Leu) variant details
- p.Gln21Leu
- rs34883432
- ClinGen CA9455026
- ClinVar RCV003932303
- UniProt VAR 023563
- Likely benign
- CYP2B6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.04
- CADD 1.64
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Likely benign (CYP2B6-related disorder)
- EBI: Benign (in allele CYP2B6*10)
- UniProt: Benign (in allele CYP2B6*10)
- Most common in the 1KG:CLM population (allele frequency 0.037)
- Structural context available
- Cited in: Multiple novel nonsynonymous CYP2B6 gene polymorphisms in Caucasians: demonstration of phenotypic null alleles. (PMID 15190123)