D28E (p.Asp28Glu) variant of CYP2B6 (Cytochrome P450 2B6)
D28E (p.Asp28Glu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- gnomAD 19-40991389-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.85
- CADD 1.79
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available