G2* (p.Gly2Ter) variant of POR (NADPH--cytochrome P450 reductase)
G2* (p.Gly2Ter) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G2* (p.Gly2Ter) variant details
- p.Gly2Ter
- gnomAD 7-75954005-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available