W48C (p.Trp48Cys) variant of CYP1A2 (Cytochrome P450 1A2)
W48C (p.Trp48Cys) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
W48C (p.Trp48Cys) variant details
- p.Trp48Cys
- gnomAD 15-74749882-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.53
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available