K48Q (p.Lys48Gln) variant of POR (NADPH--cytochrome P450 reductase)
K48Q (p.Lys48Gln) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- gnomAD 7-75954143-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available