E40* (p.Glu40Ter) variant of COMT (Catechol O-methyltransferase)
E40* (p.Glu40Ter) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 22-19962644-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available