V110L (p.Val110Leu) variant of CYP2A6 (Cytochrome P450 2A6)
V110L (p.Val110Leu) 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*24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V110L (p.Val110Leu) variant details
- p.Val110Leu
- rs72549435
- UniProt VAR 055035
- 1000Genomes rs72549435
- ESP rs72549435
- Benign
- in allele CYP2A6*24
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele CYP2A6*24)
- UniProt: Benign (in allele CYP2A6*24)
- Most common in the 1KG:LWK population (allele frequency 0.029)
- Structural context available
- Cited in: Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent. (PMID 18360915)
- Cited in: Key residues controlling phenacetin metabolism by human cytochrome P450 2A enzymes. (PMID 18779312)