E19* (p.Glu19Ter) variant of POR (NADPH--cytochrome P450 reductase)
E19* (p.Glu19Ter) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs1210260354
- gnomAD 7-75954053-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 35.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available