L12M (p.Leu12Met) variant of CYP2A6 (Cytochrome P450 2A6)
L12M (p.Leu12Met) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- TOPMed rs761726982
- gnomAD rs761726982
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.28
- CADD 21.10
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00097)
- Structural context available