P35L (p.Pro35Leu) variant of CYP2A6 (Cytochrome P450 2A6)
P35L (p.Pro35Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- ESP rs377713545
- ExAC rs377713545
- TOPMed rs377713545
- gnomAD rs377713545
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available