H27L (p.His27Leu) variant of CYP2B6 (Cytochrome P450 2B6)
H27L (p.His27Leu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H27L (p.His27Leu) variant details
- p.His27Leu
- ExAC rs750371427
- TOPMed rs750371427
- gnomAD rs750371427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.98
- CADD 0.74
- PolyPhen-2 0.12
- SIFT 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available