A2T (p.Ala2Thr) variant of CYP1A2 (Cytochrome P450 1A2)
A2T (p.Ala2Thr) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 15-74749742-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 7.90
- PolyPhen-2 0.03
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available