Q47K (p.Gln47Lys) variant of CYP2E1 (Cytochrome P450 2E1)
Q47K (p.Gln47Lys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q47K (p.Gln47Lys) variant details
- p.Gln47Lys
- gnomAD 10-133527534-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- MetaLR 0.31
- MetaSVM -0.61
- CADD 14.20
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available