M1V (p.Met1Val) variant of POR (NADPH--cytochrome P450 reductase)
M1V (p.Met1Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1787568000
- gnomAD 7-75954002-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available