R25Q (p.Arg25Gln) variant of CYP2D6 (Cytochrome P450 2D6)
R25Q (p.Arg25Gln) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs138417770
- UniProt VAR 072765
- ESP rs138417770
- ExAC rs138417770
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: In vitro functional assessment of 22 newly identified CYP2D6 allelic variants in the Chinese population. (PMID 25469868)