E40E (p.Glu40Glu) variant of COMT (Catechol O-methyltransferase)
E40E (p.Glu40Glu) in COMT (Catechol O-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- rs1834557494
- gnomAD 22-19962646-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 8.43
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available