Q62R (p.Gln62Arg) variant of CYP2E1 (Cytochrome P450 2E1)
Q62R (p.Gln62Arg) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q62R (p.Gln62Arg) variant details
- p.Gln62Arg
- ExAC rs773302720
- gnomAD rs773302720
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.90
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available