P34Q (p.Pro34Gln) variant of CYP2D6 (Cytochrome P450 2D6)
P34Q (p.Pro34Gln) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- ESP rs370009591
- ExAC rs370009591
- TOPMed rs370009591
- gnomAD rs370009591
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available