L9I (p.Leu9Ile) variant of CYP2B6 (Cytochrome P450 2B6)
L9I (p.Leu9Ile) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar 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 0.15 / 1. The record also includes population frequency data and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- TOPMed rs1209261047
- gnomAD rs1209261047
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -1.00
- CADD 2.07
- PolyPhen-2 0.15
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available