L19M (p.Leu19Met) variant of COMT (Catechol O-methyltransferase)
L19M (p.Leu19Met) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 22-19962581-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.32
- CADD 21.10
- PolyPhen-2 1.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available