L30F (p.Leu30Phe) variant of CYP2B6 (Cytochrome P450 2B6)
L30F (p.Leu30Phe) 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 0.27 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- ExAC rs751598592
- TOPMed rs751598592
- gnomAD rs751598592
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.66
- CADD 20.20
- PolyPhen-2 0.99
- SIFT 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available