K48R (p.Lys48Arg) variant of POR (NADPH--cytochrome P450 reductase)
K48R (p.Lys48Arg) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- rs782289780
- gnomAD 7-75954138-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.40
- PolyPhen-2 0.01
- Population evidence available
- Structural context available
- Literature evidence available