L40Q (p.Leu40Gln) variant of CYP2D6 (Cytochrome P450 2D6)
L40Q (p.Leu40Gln) in CYP2D6 (Cytochrome P450 2D6) 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 0.51 / 1. The record also includes population frequency data and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- ExAC rs770891169
- TOPMed rs770891169
- gnomAD rs770891169
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available