M28V (p.Met28Val) variant of POR (NADPH--cytochrome P450 reductase)
M28V (p.Met28Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- gnomAD 7-75954083-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0558
- REVEL 0.05
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available