L33Q (p.Leu33Gln) variant of COMT (Catechol O-methyltransferase)
L33Q (p.Leu33Gln) in COMT (Catechol O-methyltransferase) is a missense 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.
L33Q (p.Leu33Gln) variant details
- p.Leu33Gln
- gnomAD 22-19962624-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.27
- MetaLR 0.27
- MetaSVM -0.76
- CADD 11.70
- PolyPhen-2 0.17
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available