L52P (p.Leu52Pro) variant of CYP2B6 (Cytochrome P450 2B6)
L52P (p.Leu52Pro) 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 0.33 / 1. The record also includes population frequency data and structural context.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- ESP rs151274228
- ExAC rs151274228
- TOPMed rs151274228
- gnomAD rs151274228
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.25
- MetaLR 0.01
- MetaSVM -0.92
- CADD 21.10
- PolyPhen-2 0.99
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available