G115D (p.Gly115Asp) variant of CYP2A6 (Cytochrome P450 2A6)
G115D (p.Gly115Asp) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G115D (p.Gly115Asp) variant details
- p.Gly115Asp
- ExAC rs758479488
- gnomAD rs758479488
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.71
- CADD 29.90
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available