P34T (p.Pro34Thr) variant of CYP2E1 (Cytochrome P450 2E1)
P34T (p.Pro34Thr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD rs1484033642
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.35
- MetaLR 0.78
- MetaSVM 0.76
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available