Q58E (p.Gln58Glu) variant of POR (NADPH--cytochrome P450 reductase)
Q58E (p.Gln58Glu) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- gnomAD 7-75954173-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.06
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available