L18P (p.Leu18Pro) variant of CYP2D6 (Cytochrome P450 2D6)
L18P (p.Leu18Pro) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- Ensembl rs2146944777
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 25.90
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available