S9F (p.Ser9Phe) variant of POR (NADPH--cytochrome P450 reductase)
S9F (p.Ser9Phe) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 7-75954012-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available