p.Leu43 Ile46del variant of COMT (Catechol O-methyltransferase)
p.Leu43 Ile46del in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu43 Ile46del variant details
- gnomAD 22-19962648-TCATC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available