C125* (p.Cys125Ter) variant of COMP (P49747)
C125* (p.Cys125Ter) in COMP (P49747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C125* (p.Cys125Ter) variant details
- p.Cys125Ter
- gnomAD rs1194117558
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 38.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available