Y158* (p.Tyr158Ter) variant of COMP (P49747)
Y158* (p.Tyr158Ter) in COMP (P49747) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y158* (p.Tyr158Ter) variant details
- p.Tyr158Ter
- TOPMed rs907181708
- gnomAD rs907181708
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 39.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available