Q94E (p.Gln94Glu) variant of CYP2A6 (Cytochrome P450 2A6)
Q94E (p.Gln94Glu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q94E (p.Gln94Glu) variant details
- p.Gln94Glu
- 1000Genomes rs577267650
- ExAC rs577267650
- gnomAD rs577267650
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.09
- CADD 17.50
- PolyPhen-2 0.21
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available