G44A (p.Gly44Ala) variant of CYP2A6 (Cytochrome P450 2A6)
G44A (p.Gly44Ala) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G44A (p.Gly44Ala) variant details
- p.Gly44Ala
- ESP rs144279119
- ExAC rs144279119
- TOPMed rs144279119
- gnomAD rs144279119
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 22.80
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available