E44G (p.Glu44Gly) variant of CYP1A2 (Cytochrome P450 1A2)
E44G (p.Glu44Gly) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- gnomAD 15-74749869-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available