H27Q (p.His27Gln) variant of CYP2B6 (Cytochrome P450 2B6)
H27Q (p.His27Gln) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- gnomAD 19-40991386-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.96
- CADD 1.04
- PolyPhen-2 0.45
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available