L15H (p.Leu15His) variant of CYP2B6 (Cytochrome P450 2B6)
L15H (p.Leu15His) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 19-40991349-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- MetaLR 0.29
- MetaSVM -0.77
- CADD 21.70
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available