K53Q (p.Lys53Gln) variant of CYP2B6 (Cytochrome P450 2B6)
K53Q (p.Lys53Gln) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- 1000Genomes rs541486480
- ExAC rs541486480
- TOPMed rs541486480
- gnomAD rs541486480
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -1.00
- CADD 7.93
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available