Q75* (p.Gln75Ter) variant of COMP (P49747)
Q75* (p.Gln75Ter) in COMP (P49747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Q75* (p.Gln75Ter) variant details
- p.Gln75Ter
- ExAC rs747012627
- gnomAD rs747012627
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 39.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available