L18Q (p.Leu18Gln) variant of COMT (Catechol O-methyltransferase)
L18Q (p.Leu18Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- Ensembl rs1439513393
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.40
- CADD 12.10
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available