L23A (p.Leu23Ala) variant of COMT (Catechol O-methyltransferase)
L23A (p.Leu23Ala) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L23A (p.Leu23Ala) variant details
- p.Leu23Ala
- rs1443347792
- gnomAD 22-19962590-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available