L7Q (p.Leu7Gln) variant of COMT (Catechol O-methyltransferase)
L7Q (p.Leu7Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 22-19962546-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available