A11D (p.Ala11Asp) variant of CYP1A2 (Cytochrome P450 1A2)
A11D (p.Ala11Asp) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 15-74749770-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.31
- CADD 13.30
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available