E19K (p.Glu19Lys) variant of POR (NADPH--cytochrome P450 reductase)
E19K (p.Glu19Lys) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1210260354
- gnomAD 7-75954053-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available