M28I (p.Met28Ile) variant of POR (NADPH--cytochrome P450 reductase)
M28I (p.Met28Ile) 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.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- gnomAD 7-75954085-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 5.44
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available