Q46* (p.Gln46Ter) variant of COMP (P49747)
Q46* (p.Gln46Ter) in COMP (P49747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- ESP rs374010493
- ExAC rs374010493
- TOPMed rs374010493
- gnomAD rs374010493
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available