L18M (p.Leu18Met) variant of COMT (Catechol O-methyltransferase)
L18M (p.Leu18Met) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 22-19962578-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- MetaLR 0.38
- MetaSVM -0.68
- CADD 13.60
- PolyPhen-2 0.67
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available