E152* (p.Glu152Ter) variant of COMP (P49747)
E152* (p.Glu152Ter) in COMP (P49747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E152* (p.Glu152Ter) variant details
- p.Glu152Ter
- ExAC rs748432425
- gnomAD rs748432425
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 41.00
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available