P39L (p.Pro39Leu) variant of CYP2A6 (Cytochrome P450 2A6)
P39L (p.Pro39Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- TOPMed rs1276819995
- gnomAD rs1276819995
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available