L2Q (p.Leu2Gln) variant of CYP2A6 (Cytochrome P450 2A6)
L2Q (p.Leu2Gln) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L2Q (p.Leu2Gln) variant details
- p.Leu2Gln
- ExAC rs765187344
- TOPMed rs765187344
- gnomAD rs765187344
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available