R45M (p.Arg45Met) variant of POR (NADPH--cytochrome P450 reductase)
R45M (p.Arg45Met) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R45M (p.Arg45Met) variant details
- p.Arg45Met
- gnomAD 7-75968128-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available