F44I (p.Phe44Ile) variant of POR (NADPH--cytochrome P450 reductase)
F44I (p.Phe44Ile) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F44I (p.Phe44Ile) variant details
- p.Phe44Ile
- gnomAD 7-75954125-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available