L12I (p.Leu12Ile) variant of CYP2B6 (Cytochrome P450 2B6)
L12I (p.Leu12Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- ExAC rs758475406
- TOPMed rs758475406
- gnomAD rs758475406
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -1.00
- CADD 0.05
- PolyPhen-2 0.06
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available