L58P (p.Leu58Pro) variant of CYP2A6 (Cytochrome P450 2A6)
L58P (p.Leu58Pro) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- ExAC rs752873366
- gnomAD rs752873366
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.46
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available