E89Q (p.Glu89Gln) variant of CYP2A6 (Cytochrome P450 2A6)
E89Q (p.Glu89Gln) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E89Q (p.Glu89Gln) variant details
- p.Glu89Gln
- ExAC rs762249658
- TOPMed rs762249658
- gnomAD rs762249658
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available