Q57* (p.Gln57Ter) variant of COMT (Catechol O-methyltransferase)
Q57* (p.Gln57Ter) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- ExAC rs756145905
- gnomAD rs756145905
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 37.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available