G100E (p.Gly100Glu) variant of CYP2A6 (Cytochrome P450 2A6)
G100E (p.Gly100Glu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G100E (p.Gly100Glu) variant details
- p.Gly100Glu
- ExAC rs747840206
- TOPMed rs747840206
- gnomAD rs747840206
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00021)
- Structural context available