V117L (p.Val117Leu) variant of CYP2A6 (Cytochrome P450 2A6)
V117L (p.Val117Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V117L (p.Val117Leu) variant details
- p.Val117Leu
- Ensembl rs1599779838
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- CADD 8.95
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available