V20M (p.Val20Met) variant of POR (NADPH--cytochrome P450 reductase)
V20M (p.Val20Met) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- rs1554553342
- gnomAD 7-75954047-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.04
- CADD 9.47
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available