W5* (p.Trp5Ter) variant of C2CD2L (O14523)
W5* (p.Trp5Ter) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- TOPMed rs1193633951
- gnomAD rs1193633951
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available