K53E (p.Lys53Glu) variant of CYP2B6 (Cytochrome P450 2B6)
K53E (p.Lys53Glu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- gnomAD 19-40991462-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.05
- MetaLR 0.18
- MetaSVM -0.93
- CADD 10.50
- PolyPhen-2 0.15
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available