V117A (p.Val117Ala) variant of CYP2A6 (Cytochrome P450 2A6)
V117A (p.Val117Ala) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V117A (p.Val117Ala) variant details
- p.Val117Ala
- ExAC rs765212505
- TOPMed rs765212505
- gnomAD rs765212505
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- CADD 6.76
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available