Q62E (p.Gln62Glu) variant of CYP2E1 (Cytochrome P450 2E1)
Q62E (p.Gln62Glu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q62E (p.Gln62Glu) variant details
- p.Gln62Glu
- ExAC rs768536485
- gnomAD rs768536485
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.03
- CADD 8.61
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available