P39L (p.Pro39Leu) variant of CYP2D6 (Cytochrome P450 2D6)
P39L (p.Pro39Leu) in CYP2D6 (Cytochrome P450 2D6) 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 0.63 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- TOPMed rs1326543372
- gnomAD rs1326543372
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available