E13G (p.Glu13Gly) variant of CYP1A2 (Cytochrome P450 1A2)
E13G (p.Glu13Gly) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- ExAC rs756588544
- gnomAD rs756588544
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available