A19H (p.Ala19His) variant of CYP1A2 (Cytochrome P450 1A2)
A19H (p.Ala19His) in CYP1A2 (Cytochrome P450 1A2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A19H (p.Ala19His) variant details
- p.Ala19His
- rs746300395
- gnomAD 15-74749791-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available