M28T (p.Met28Thr) variant of POR (NADPH--cytochrome P450 reductase)
M28T (p.Met28Thr) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
M28T (p.Met28Thr) variant details
- p.Met28Thr
- gnomAD 7-75954084-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.06
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available