L23Q (p.Leu23Gln) variant of COMT (Catechol O-methyltransferase)
L23Q (p.Leu23Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- TOPMed rs970645223
- gnomAD rs970645223
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.23
- CADD 12.30
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available