G44E (p.Gly44Glu) variant of CYP2A6 (Cytochrome P450 2A6)
G44E (p.Gly44Glu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- ESP rs144279119
- ExAC rs144279119
- TOPMed rs144279119
- gnomAD rs144279119
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available