L49V (p.Leu49Val) variant of COMT (Catechol O-methyltransferase)
L49V (p.Leu49Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- TOPMed rs1942222499
- gnomAD rs1942222499
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.07
- CADD 11.50
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available