E2K (p.Glu2Lys) variant of CYP2B6 (Cytochrome P450 2B6)
E2K (p.Glu2Lys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- cosmic curated COSV60698
- Ensembl rs1555791859
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.87
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available