P34Q (p.Pro34Gln) variant of CYP2E1 (Cytochrome P450 2E1)
P34Q (p.Pro34Gln) in CYP2E1 (Cytochrome P450 2E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- gnomAD 10-133527491-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available