Q23* (p.Gln23Ter) variant of COMP (P49747)
Q23* (p.Gln23Ter) in COMP (P49747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- gnomAD rs1461289752
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 36.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available