E40Q (p.Glu40Gln) variant of COMT (Catechol O-methyltransferase)
E40Q (p.Glu40Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- gnomAD rs984098043
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available