L33M (p.Leu33Met) variant of COMT (Catechol O-methyltransferase)
L33M (p.Leu33Met) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L33M (p.Leu33Met) variant details
- p.Leu33Met
- gnomAD 22-19962623-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.86
- CADD 1.59
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available