H5H (p.His5His) variant of POR (NADPH--cytochrome P450 reductase)
H5H (p.His5His) in POR (NADPH--cytochrome P450 reductase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H5H (p.His5His) variant details
- p.His5His
- rs1007356570
- gnomAD 7-75954016-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 3.72
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available