H27P (p.His27Pro) variant of CYP2B6 (Cytochrome P450 2B6)
H27P (p.His27Pro) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H27P (p.His27Pro) variant details
- p.His27Pro
- gnomAD 19-40991381-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 17.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available