R45W (p.Arg45Trp) variant of POR (NADPH--cytochrome P450 reductase)
R45W (p.Arg45Trp) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs1554555627
- gnomAD 7-75968254-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 0.07
- Most common in the HGDP:XIBO population (allele frequency 0.11)
- Structural context available
- Literature evidence available