G42E (p.Gly42Glu) variant of CYP2D6 (Cytochrome P450 2D6)
G42E (p.Gly42Glu) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- cosmic curated COSV10591
- 1000Genomes rs118203758
- ExAC rs118203758
- TOPMed rs118203758
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 17.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available