L50L (p.Leu50Leu) variant of COMT (Catechol O-methyltransferase)
L50L (p.Leu50Leu) in COMT (Catechol O-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 22-19962676-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 12.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available