Q7* (p.Gln7Ter) variant of C2CD2L (O14523)
Q7* (p.Gln7Ter) in C2CD2L (O14523) 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, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- gnomAD 11-119107760-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available