G14D (p.Gly14Asp) variant of CYP2B6 (Cytochrome P450 2B6)
G14D (p.Gly14Asp) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 19-40991344-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available