E44K (p.Glu44Lys) variant of CYP1A2 (Cytochrome P450 1A2)
E44K (p.Glu44Lys) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- ExAC rs3743482
- gnomAD rs3743482
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.41
- CADD 24.10
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available