P66Q (p.Pro66Gln) variant of CYP2E1 (Cytochrome P450 2E1)
P66Q (p.Pro66Gln) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P66Q (p.Pro66Gln) variant details
- p.Pro66Gln
- cosmic curated COSV99429
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.31
- MetaLR 0.56
- MetaSVM 0.38
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available