L40S (p.Leu40Ser) variant of CYP2B6 (Cytochrome P450 2B6)
L40S (p.Leu40Ser) 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 0.61 / 1. The record also includes population frequency data and structural context.
L40S (p.Leu40Ser) variant details
- p.Leu40Ser
- TOPMed rs1317585439
- gnomAD rs1317585439
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.14
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available