H5T (p.His5Thr) variant of POR (NADPH--cytochrome P450 reductase)
H5T (p.His5Thr) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H5T (p.His5Thr) variant details
- p.His5Thr
- gnomAD 7-75954011-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available