L13V (p.Leu13Val) variant of COMT (Catechol O-methyltransferase)
L13V (p.Leu13Val) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- rs753820115
- gnomAD 22-19962560-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.20
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available