G100R (p.Gly100Arg) variant of CYP2A6 (Cytochrome P450 2A6)
G100R (p.Gly100Arg) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- ExAC rs769272500
- TOPMed rs769272500
- gnomAD rs769272500
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available