K48N (p.Lys48Asn) variant of POR (NADPH--cytochrome P450 reductase)
K48N (p.Lys48Asn) 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.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- rs56355228
- gnomAD 7-75954139-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- AlphaMissense 0.48
- MetaLR 0.15
- MetaSVM -0.86
- CADD 23.10
- PolyPhen-2 0.03
- Population evidence available
- Structural context available
- Literature evidence available