A17D (p.Ala17Asp) variant of CYP1A2 (Cytochrome P450 1A2)
A17D (p.Ala17Asp) 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, published literature, and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- gnomAD 15-74749788-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.53
- CADD 22.70
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available