L40W (p.Leu40Trp) variant of CYP2B6 (Cytochrome P450 2B6)
L40W (p.Leu40Trp) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L40W (p.Leu40Trp) variant details
- p.Leu40Trp
- TOPMed rs1317585439
- gnomAD rs1317585439
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.62
- MetaLR 0.56
- MetaSVM 0.13
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available