V116L (p.Val116Leu) variant of CYP2A6 (Cytochrome P450 2A6)
V116L (p.Val116Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V116L (p.Val116Leu) variant details
- p.Val116Leu
- ESP rs376782364
- ExAC rs376782364
- TOPMed rs376782364
- gnomAD rs376782364
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 0.22
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available