K56E (p.Lys56Glu) variant of POR (NADPH--cytochrome P450 reductase)
K56E (p.Lys56Glu) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- gnomAD 7-75954167-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available