E14R (p.Glu14Arg) variant of POR (NADPH--cytochrome P450 reductase)
E14R (p.Glu14Arg) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E14R (p.Glu14Arg) variant details
- p.Glu14Arg
- gnomAD 7-75968107-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 3.33
- Population evidence available
- Structural context available
- Literature evidence available