D27H (p.Asp27His) variant of POR (NADPH--cytochrome P450 reductase)
D27H (p.Asp27His) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D27H (p.Asp27His) variant details
- p.Asp27His
- gnomAD 7-75954080-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available